MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000265849
Querying Taster for transcript #2: ENST00000699930
Querying Taster for transcript #3: ENST00000699811
Querying Taster for transcript #4: ENST00000699752
Querying Taster for transcript #5: ENST00000699818
Querying Taster for transcript #6: ENST00000699754
Querying Taster for transcript #7: ENST00000699760
Querying Taster for transcript #8: ENST00000699821
Querying Taster for transcript #9: ENST00000699766
Querying Taster for transcript #10: ENST00000699768
Querying Taster for transcript #11: ENST00000699839
Querying Taster for transcript #12: ENST00000699823
Querying Taster for transcript #13: ENST00000699840
Querying Taster for transcript #14: ENST00000699827
Querying Taster for transcript #15: ENST00000642292
Querying Taster for transcript #16: ENST00000642456
Querying Taster for transcript #17: ENST00000382321
Querying Taster for transcript #18: ENST00000699825
Querying Taster for transcript #19: ENST00000699837
Querying Taster for transcript #20: ENST00000699761
Querying Taster for transcript #21: ENST00000699762
MT speed 0.27 s - this script 2.810209 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000265849(MANE Select)	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699930	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699811	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699752	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699818	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699754	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699760	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699821	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699766	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699768	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699839	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699823	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699840	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699827	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699825	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699837	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699761	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000699762	PMS2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000642292	PMS2	Benign	1\|199	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000642456	PMS2	Benign	1\|199	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000382321	PMS2	Benign	108\|92	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

7:6007152G>A_1_ENST00000265849

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

LOEUF: 0.90, LOF (oe): 0.68, misssense (oe): 0.96, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000265849.12

Genbank transcript ID

NM_000535 (exact from MANE), NM_001406872 (by similarity), NM_001406868 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF VVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAPQTLN LTAVNEAVLI ENLEIFRKNG FDFVIDENAP VTERAKLISL PTSKNWTFGP
QDVDELIFML SDSPGVMCRP SRVKQMFASR ACRKSVMIGT ALNTSEMKKL ITHMGEMDHP
WNCPHGRPTM RHIANLGVIS QN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

2475

Theoretical NMD boundary in CDS

2394

Length of CDS

2589

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_2_ENST00000699930

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699930.2

Genbank transcript ID

NM_001406869 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRL QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC
THGVGRSSTD RQFFFINRRP CDPAKVCRLV NEVYHMYNRH QYPFVVLNIS VDSECVDINV
TPDKRQILLQ EEKLLLAVLK TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM
VEKQDQSPSL RTGEEKKDVS ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS
STSGAISDKG VLRPQKEAVS SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS
SEYAASSPGD RGSQEHVDSQ EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT
KRFKKEEILS SSDICQKLVN TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA
QQSEGEQNYR KFRAKICPGE NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF
IVDQHATDEK YNFEMLQQHT VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID
ENAPVTERAK LISLPTSKNW TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV
MIGTALNTSE MKKLITHMGE MDHPWNCPHG RPTMRHIANL GVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

81 / 81

Last intron/exon boundary

2417

Theoretical NMD boundary in CDS

2286

Length of CDS

2481

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_3_ENST00000699811

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699811.1

Genbank transcript ID

NM_001406881 (by similarity), NM_001406879 (by similarity), NM_001406905 (by similarity), NM_001406910 (by similarity), NM_001406908 (by similarity), NM_001322003 (by similarity), NM_001322015 (by similarity), NM_001406880 (by similarity), NM_001406890 (by similarity), NM_001406878 (by similarity), NM_001406891 (by similarity), NM_001406893 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-552-1126C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

606 / 606

Last intron/exon boundary

2645

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_4_ENST00000699752

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699752.1

Genbank transcript ID

NM_001406884 (by similarity), NM_001322006 (by similarity), NM_001406870 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF VVLNISVDSG NLIKMHAADL EKPMVEKQDQ SPSLRTGEEK
KDVSISRLRE AFSLRHTTEN KPHSPKTPEP RRSPLGQKRG MLSSSTSGAI SDKGVLRPQK
EAVSSSHGPS DPTDRAEVEK DSGHGSTSVD SEGFSIPDTG SHCSSEYAAS SPGDRGSQEH
VDSQEKAPKT DDSFSDVDCH SNQEDTGCKF RVLPQPTNLA TPNTKRFKKE EILSSSDICQ
KLVNTQDMSA SQVDVAVKIN KKVVPLDFSM SSLAKRIKQL HHEAQQSEGE QNYRKFRAKI
CPGENQAAED ELRKEISKTM FAEMEIIGQF NLGFIITKLN EDIFIVDQHA TDEKYNFEML
QQHTVLQGQR LIAPQTLNLT AVNEAVLIEN LEIFRKNGFD FVIDENAPVT ERAKLISLPT
SKNWTFGPQD VDELIFMLSD SPGVMCRPSR VKQMFASRAC RKSVMIGTAL NTSEMKKLIT
HMGEMDHPWN CPHGRPTMRH IANLGVISQN *

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

2319

Theoretical NMD boundary in CDS

2238

Length of CDS

2433

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_5_ENST00000699818

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699818.1

Genbank transcript ID

NM_001406898 (by similarity), NM_001406897 (by similarity), NM_001406894 (by similarity), NM_001322005 (by similarity), NM_001406882 (by similarity), NM_001406877 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-382-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

626 / 626

Last intron/exon boundary

2665

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_6_ENST00000699754

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699754.1

Genbank transcript ID

NM_001406886 (by similarity), NM_001406873 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQVCRLV
NEVYHMYNRH QYPFVVLNIS VDSECVDINV TPDKRQILLQ EEKLLLAVLK TSLIGMFDSD
VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL RTGEEKKDVS ISRLREAFSL
RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG VLRPQKEAVS SSHGPSDPTD
RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD RGSQEHVDSQ EKAPKTDDSF
SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS SSDICQKLVN TQDMSASQVD
VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR KFRAKICPGE NQAAEDELRK
EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK YNFEMLQQHT VLQGQRLIAP
QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK LISLPTSKNW TFGPQDVDEL
IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE MKKLITHMGE MDHPWNCPHG
RPTMRHIANL GVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

46 / 46

Last intron/exon boundary

2292

Theoretical NMD boundary in CDS

2196

Length of CDS

2391

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_7_ENST00000699760

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699760.1

Genbank transcript ID

NM_001322008 (by similarity), NM_001406902 (by similarity), NM_001406883 (by similarity), NM_001406901 (by similarity), NM_001406903 (by similarity), NM_001322007 (by similarity), NM_001406876 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-53+1845C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MWGRRRKLRR LNDVTISTCH ASAKVGTRLM FDHNGKIIQK TPYPRPRGTT VSVQQLFSTL
PVRHKEFQRN IKKEYAKMVQ VLHAYCIISA GIRVSCTNQL GQGKRQPVVC TGGSPSIKEN
IGSVFGQKQL QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC THGVGRSSTD
RQFFFINRRP CDPAKVCRLV NEVYHMYNRH QYPFVVLNIS VDSECVDINV TPDKRQILLQ
EEKLLLAVLK TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL
RTGEEKKDVS ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG
VLRPQKEAVS SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD
RGSQEHVDSQ EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS
SSDICQKLVN TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR
KFRAKICPGE NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK
YNFEMLQQHT VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK
LISLPTSKNW TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE
MKKLITHMGE MDHPWNCPHG RPTMRHIANL GVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

153 / 153

Last intron/exon boundary

2279

Theoretical NMD boundary in CDS

2076

Length of CDS

2271

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_8_ENST00000699821

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699821.1

Genbank transcript ID

NM_001406887 (by similarity), NM_001406888 (by similarity), NM_001322009 (by similarity), NM_001406875 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-377-1126C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENVMDFSQN CILLAPVTER AKLISLPTSK NWTFGPQDVD
ELIFMLSDSP GVMCRPSRVK QMFASRACRK SVMIGTALNT SEMKKLITHM GEMDHPWNCP
HGRPTMRHIA NLGVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

487 / 487

Last intron/exon boundary

2559

Theoretical NMD boundary in CDS

2022

Length of CDS

2217

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_9_ENST00000699766

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699766.1

Genbank transcript ID

NM_001322014 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF VVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAPQTLN LTAVNEAVLI ENLEIFRKNG FDFVIDENVM DFSQNCILLA PVTERAKLIS
LPTSKNWTFG PQDVDELIFM LSDSPGVMCR PSRVKQMFAS RACRKSVMIG TALNTSEMKK
LITHMGEMDH PWNCPHGRPT MRHIANLGVI SQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

104 / 104

Last intron/exon boundary

2581

Theoretical NMD boundary in CDS

2427

Length of CDS

2622

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_10_ENST00000699768

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699768.1

Genbank transcript ID

NM_001406871 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF VVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAKNWTF GPQDVDELIF MLSDSPGVMC RPSRVKQMFA SRACRKSVMI GTALNTSEMK
KLITHMGEMD HPWNCPHGRP TMRHIANLGV ISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

104 / 104

Last intron/exon boundary

2404

Theoretical NMD boundary in CDS

2250

Length of CDS

2445

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_11_ENST00000699839

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699839.1

Genbank transcript ID

NM_001406866 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-665C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSKD GVSPCWPGWC RTPDLKLSTH LCFPKCWDYR HEPPQPAMLS LFKKEDTIVA
KDFGNLRDTI TEPAKAIKPI DRKSVHQICS GQVVLSLSTA VKELVENSLD AGATNIDLKL
KDYGVDLIEV SDNGCGVEEE NFEGLTLKHH TSKIQEFADL TQVETFGFRG EALSSLCALS
DVTISTCHAS AKVGTRLMFD HNGKIIQKTP YPRPRGTTVS VQQLFSTLPV RHKEFQRNIK
KEYAKMVQVL HAYCIISAGI RVSCTNQLGQ GKRQPVVCTG GSPSIKENIG SVFGQKQLQS
LIPFVQLPPS DSVCEEYGLS CSDALHNLFY ISGFISQCTH GVGRSSTDRQ FFFINRRPCD
PAKVCRLVNE VYHMYNRHQY PFVVLNISVD SECVDINVTP DKRQILLQEE KLLLAVLKTS
LIGMFDSDVN KLNVSQQPLL DVEGNLIKMH AADLEKPMVE KQDQSPSLRT GEEKKDVSIS
RLREAFSLRH TTENKPHSPK TPEPRRSPLG QKRGMLSSST SGAISDKGVL RPQKEAVSSS
HGPSDPTDRA EVEKDSGHGS TSVDSEGFSI PDTGSHCSSE YAASSPGDRG SQEHVDSQEK
APKTDDSFSD VDCHSNQEDT GCKFRVLPQP TNLATPNTKR FKKEEILSSS DICQKLVNTQ
DMSASQVDVA VKINKKVVPL DFSMSSLAKR IKQLHHEAQQ SEGEQNYRKF RAKICPGENQ
AAEDELRKEI SKTMFAEMEI IGQFNLGFII TKLNEDIFIV DQHATDEKYN FEMLQQHTVL
QGQRLIAPQT LNLTAVNEAV LIENLEIFRK NGFDFVIDEN APVTERAKLI SLPTSKNWTF
GPQDVDELIF MLSDSPGVMC RPSRVKQMFA SRACRKSVMI GTALNTSEMK KLITHMGEMD
HPWNCPHGRP TMRHIANLGV ISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

66 / 66

Last intron/exon boundary

2696

Theoretical NMD boundary in CDS

2580

Length of CDS

2775

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_12_ENST00000699823

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699823.1

Genbank transcript ID

NM_001406895 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-190+1845C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

258 / 258

Last intron/exon boundary

2297

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_13_ENST00000699840

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699840.2

Genbank transcript ID

NM_001406885 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKY
AKMVQVLHAY CIISAGIRVS CTNQLGQGKR QPVVCTGGSP SIKENIGSVF GQKQLQSLIP
FVQLPPSDSV CEEYGLSCSD ALHNLFYISG FISQCTHGVG RSSTDRQFFF INRRPCDPAK
VCRLVNEVYH MYNRHQYPFV VLNISVDSEC VDINVTPDKR QILLQEEKLL LAVLKTSLIG
MFDSDVNKLN VSQQPLLDVE GNLIKMHAAD LEKPMVEKQD QSPSLRTGEE KKDVSISRLR
EAFSLRHTTE NKPHSPKTPE PRRSPLGQKR GMLSSSTSGA ISDKGVLRPQ KEAVSSSHGP
SDPTDRAEVE KDSGHGSTSV DSEGFSIPDT GSHCSSEYAA SSPGDRGSQE HVDSQEKAPK
TDDSFSDVDC HSNQEDTGCK FRVLPQPTNL ATPNTKRFKK EEILSSSDIC QKLVNTQDMS
ASQVDVAVKI NKKVVPLDFS MSSLAKRIKQ LHHEAQQSEG EQNYRKFRAK ICPGENQAAE
DELRKEISKT MFAEMEIIGQ FNLGFIITKL NEDIFIVDQH ATDEKYNFEM LQQHTVLQGQ
RLIAPQTLNL TAVNEAVLIE NLEIFRKNGF DFVIDENAPV TERAKLISLP TSKNWTFGPQ
DVDELIFMLS DSPGVMCRPS RVKQMFASRA CRKSVMIGTA LNTSEMKKLI THMGEMDHPW
NCPHGRPTMR HIANLGVISQ N*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

69 / 69

Last intron/exon boundary

2510

Theoretical NMD boundary in CDS

2391

Length of CDS

2586

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_14_ENST00000699827

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699827.1

Genbank transcript ID

NM_001406874 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKL
QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC THGVGRSSTD RQFFFINRRP
CDPAKVCRLV NEVYHMYNRH QYPFVVLNIS VDSECVDINV TPDKRQILLQ EEKLLLAVLK
TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL RTGEEKKDVS
ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG VLRPQKEAVS
SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD RGSQEHVDSQ
EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS SSDICQKLVN
TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR KFRAKICPGE
NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK YNFEMLQQHT
VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK LISLPTSKNW
TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE MKKLITHMGE
MDHPWNCPHG RPTMRHIANL GVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

81 / 81

Last intron/exon boundary

2357

Theoretical NMD boundary in CDS

2226

Length of CDS

2421

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_18_ENST00000699825

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699825.1

Genbank transcript ID

NM_001322010 (by similarity), NM_001406906 (by similarity), NM_001406900 (by similarity), NM_001406907 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-377-1126C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSGNLIKM HAADLEKPMV EKQDQSPSLR TGEEKKDVSI SRLREAFSLR
HTTENKPHSP KTPEPRRSPL GQKRGMLSSS TSGAISDKGV LRPQKEAVSS SHGPSDPTDR
AEVEKDSGHG STSVDSEGFS IPDTGSHCSS EYAASSPGDR GSQEHVDSQE KAPKTDDSFS
DVDCHSNQED TGCKFRVLPQ PTNLATPNTK RFKKEEILSS SDICQKLVNT QDMSASQVDV
AVKINKKVVP LDFSMSSLAK RIKQLHHEAQ QSEGEQNYRK FRAKICPGEN QAAEDELRKE
ISKTMFAEME IIGQFNLGFI ITKLNEDIFI VDQHATDEKY NFEMLQQHTV LQGQRLIAPQ
TLNLTAVNEA VLIENLEIFR KNGFDFVIDE NAPVTERAKL ISLPTSKNWT FGPQDVDELI
FMLSDSPGVM CRPSRVKQMF ASRACRKSVM IGTALNTSEM KKLITHMGEM DHPWNCPHGR
PTMRHIANLG VISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

457 / 457

Last intron/exon boundary

2340

Theoretical NMD boundary in CDS

1833

Length of CDS

2028

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_19_ENST00000699837

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699837.1

Genbank transcript ID

NM_001406896 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-274-1126C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

343 / 343

Last intron/exon boundary

2382

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_20_ENST00000699761

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699761.1

Genbank transcript ID

NM_001406904 (by similarity), NM_001406889 (by similarity), NM_001406892 (by similarity), NM_001406899 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-324-1126C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

426 / 426

Last intron/exon boundary

2465

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:6007152G>A_21_ENST00000699762

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699762.1

Genbank transcript ID

NM_001406911 (by similarity), NM_001322013 (by similarity), NM_001322012 (by similarity), NM_001406909 (by similarity), NM_001322011 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-377-1126C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKLQSLIP FVQLPPSDSV
CEEYGLSCSD ALHNLFYISG FISQCTHGVG RSSTDRQFFF INRRPCDPAK VCRLVNEVYH
MYNRHQYPFV VLNISVDSEC VDINVTPDKR QILLQEEKLL LAVLKTSLIG MFDSDVNKLN
VSQQPLLDVE GNLIKMHAAD LEKPMVEKQD QSPSLRTGEE KKDVSISRLR EAFSLRHTTE
NKPHSPKTPE PRRSPLGQKR GMLSSSTSGA ISDKGVLRPQ KEAVSSSHGP SDPTDRAEVE
KDSGHGSTSV DSEGFSIPDT GSHCSSEYAA SSPGDRGSQE HVDSQEKAPK TDDSFSDVDC
HSNQEDTGCK FRVLPQPTNL ATPNTKRFKK EEILSSSDIC QKLVNTQDMS ASQVDVAVKI
NKKVVPLDFS MSSLAKRIKQ LHHEAQQSEG EQNYRKFRAK ICPGENQAAE DELRKEISKT
MFAEMEIIGQ FNLGFIITKL NEDIFIVDQH ATDEKYNFEM LQQHTVLQGQ RLIAPQTLNL
TAVNEAVLIE NLEIFRKNGF DFVIDENAPV TERAKLISLP TSKNWTFGPQ DVDELIFMLS
DSPGVMCRPS RVKQMFASRA CRKSVMIGTA LNTSEMKKLI THMGEMDHPW NCPHGRPTMR
HIANLGVISQ N*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

481 / 481

Last intron/exon boundary

2352

Theoretical NMD boundary in CDS

1821

Length of CDS

2016

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:6007152G>A_15_ENST00000642292

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

LOEUF: 0.83, LOF (oe): 0.60, misssense (oe): 0.93, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000642292.1

Genbank transcript ID

NM_001322004 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-243+1845C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

344 / 344

Last intron/exon boundary

2383

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:6007152G>A_16_ENST00000642456

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

LOEUF: 0.83, LOF (oe): 0.60, misssense (oe): 0.93, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000642456.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-377-1126C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

457 / 457

Last intron/exon boundary

2496

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:6007152G>A_17_ENST00000382321

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 108|92 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr7:6007152G>A (GRCh38)

Gene symbol

PMS2

Gene constraints

LOEUF: 1.04, LOF (oe): 0.73, misssense (oe): 0.93, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000382321.5

Genbank transcript ID

NM_001406912 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.24-1121C>T
g.1979C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs7797466
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	4218	25798	30016

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.709	0
	0.737	0.001
(flanking)	-0.856	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

TTGCCCTCTAGCATAGGCAACGGGGTGAGACTCTGTCTCAA

Altered gDNA sequence snippet

TTGCCCTCTAGCATAGGCAATGGGGTGAGACTCTGTCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYKT MFAEMEIIGQ FNLGFIITKL NEDIFIVDQH
ATDEKYNFEM LQQHTVLQGQ RLIAPQTLNL TAVNEAVLIE NLEIFRKNGF DFVIDENAPV
TERAKLISLP TSKNWTFGPQ DVDELIFMLS DSPGVMCRPS RVKQMFASRA CRKSVMIGTA
LNTSEMKKLI THMGEMDHPW NCPHGRPTMR HIANLGVISQ N*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

1242

Theoretical NMD boundary in CDS

1191

Length of CDS

1386

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1979

Chromosomal position

6007152

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table