MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000585892
Querying Taster for transcript #2: ENST00000355667
Querying Taster for transcript #3: ENST00000389253
Querying Taster for transcript #4: ENST00000359692
Querying Taster for transcript #5: ENST00000408974
MT speed 0.1 s - this script 2.505913 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000355667	DNM2	Benign	72\|128	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000585892	DNM2	Benign	73\|127	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000389253(MANE Select)	DNM2	Benign	74\|126	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000359692	DNM2	Benign	75\|125	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000408974	DNM2	Benign	75\|125	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

19:10775836T>C_2_ENST00000355667

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 72|128 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:10775836T>C (GRCh38)

Gene symbol

DNM2

Gene constraints

LOEUF: 0.21, LOF (oe): 0.13, misssense (oe): 0.61, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000355667.11

Genbank transcript ID

NM_001005360 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.519T>C
g.57782T>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs77702567
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	4	931	935

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.905	1
	-3.719	0
(flanking)	10.003	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

19

Strand

1

Original gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Original cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

Mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

Position of stopcodon in wt / mu CDS

2613 / 2613

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

871 / 871

Position of stopcodon in wt / mu cDNA

2777 / 2777

Position of start ATG in wt / mu cDNA

165 / 165

Last intron/exon boundary

2707

Theoretical NMD boundary in CDS

2492

Length of CDS

2613

Coding sequence (CDS) position

519

cDNA position

683

gDNA position

57782

Chromosomal position

10775836

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:

19:10775836T>C_1_ENST00000585892

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 73|127 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:10775836T>C (GRCh38)

Gene symbol

DNM2

Gene constraints

LOEUF: 0.21, LOF (oe): 0.13, misssense (oe): 0.61, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000585892.5

Genbank transcript ID

NM_001190716 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.519T>C
g.57782T>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs77702567
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	4	931	935

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.905	1
	-3.719	0
(flanking)	10.003	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

19

Strand

1

Original gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Original cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPRRP PAAPSRPTII RPAEPSLLD*

Mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPRRP PAAPSRPTII RPAEPSLLD*

Position of stopcodon in wt / mu CDS

2610 / 2610

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

870 / 870

Position of stopcodon in wt / mu cDNA

2774 / 2774

Position of start ATG in wt / mu cDNA

165 / 165

Last intron/exon boundary

2707

Theoretical NMD boundary in CDS

2492

Length of CDS

2610

Coding sequence (CDS) position

519

cDNA position

683

gDNA position

57782

Chromosomal position

10775836

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:

19:10775836T>C_3_ENST00000389253

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 74|126 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:10775836T>C (GRCh38)

Gene symbol

DNM2

Gene constraints

LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.61, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000389253.9

Genbank transcript ID

NM_001005361 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.519T>C
g.57782T>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs77702567
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	4	931	935

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.905	1
	-3.719	0
(flanking)	10.003	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

19

Strand

1

Original gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Original cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

Mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

Position of stopcodon in wt / mu CDS

2613 / 2613

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

871 / 871

Position of stopcodon in wt / mu cDNA

2777 / 2777

Position of start ATG in wt / mu cDNA

165 / 165

Last intron/exon boundary

2707

Theoretical NMD boundary in CDS

2492

Length of CDS

2613

Coding sequence (CDS) position

519

cDNA position

683

gDNA position

57782

Chromosomal position

10775836

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:

19:10775836T>C_4_ENST00000359692

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 75|125 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:10775836T>C (GRCh38)

Gene symbol

DNM2

Gene constraints

LOEUF: 0.22, LOF (oe): 0.14, misssense (oe): 0.61, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000359692.10

Genbank transcript ID

NM_004945 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.519T>C
g.57782T>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs77702567
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	4	931	935

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.905	1
	-3.719	0
(flanking)	10.003	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

19

Strand

1

Original gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Original cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQVIRRG WLTINNISLM KGGSKEYWFV
LTAESLSWYK DEEEKEKKYM LPLDNLKIRD VEKGFMSNKH VFAIFNTEQR NVYKDLRQIE
LACDSQEDVD SWKASFLRAG VYPEKDQAEN EDGAQENTFS MDPQLERQVE TIRNLVDSYV
AIINKSIRDL MPKTIMHLMI NNTKAFIHHE LLAYLYSSAD QSSLMEESAD QAQRRDDMLR
MYHALKEALN IIGDISTSTV STPVPPPVDD TWLQSASSHS PTPQRRPVSS IHPPGRPPAV
RGPTPGPPLI PVPVGAAASF SAPPIPSRPG PQSVFANSDL FPAPPQIPSR PVRIPPGIPP
GVPSRRPPAA PSRPTIIRPA EPSLLD*

Mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQVIRRG WLTINNISLM KGGSKEYWFV
LTAESLSWYK DEEEKEKKYM LPLDNLKIRD VEKGFMSNKH VFAIFNTEQR NVYKDLRQIE
LACDSQEDVD SWKASFLRAG VYPEKDQAEN EDGAQENTFS MDPQLERQVE TIRNLVDSYV
AIINKSIRDL MPKTIMHLMI NNTKAFIHHE LLAYLYSSAD QSSLMEESAD QAQRRDDMLR
MYHALKEALN IIGDISTSTV STPVPPPVDD TWLQSASSHS PTPQRRPVSS IHPPGRPPAV
RGPTPGPPLI PVPVGAAASF SAPPIPSRPG PQSVFANSDL FPAPPQIPSR PVRIPPGIPP
GVPSRRPPAA PSRPTIIRPA EPSLLD*

Position of stopcodon in wt / mu CDS

2601 / 2601

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

867 / 867

Position of stopcodon in wt / mu cDNA

2751 / 2751

Position of start ATG in wt / mu cDNA

151 / 151

Last intron/exon boundary

2681

Theoretical NMD boundary in CDS

2480

Length of CDS

2601

Coding sequence (CDS) position

519

cDNA position

669

gDNA position

57782

Chromosomal position

10775836

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:

19:10775836T>C_5_ENST00000408974

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 75|125 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:10775836T>C (GRCh38)

Gene symbol

DNM2

Gene constraints

LOEUF: 0.25, LOF (oe): 0.16, misssense (oe): 0.62, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000408974.8

Genbank transcript ID

NM_001005362 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.519T>C
g.57782T>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs77702567
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	4	931	935

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.905	1
	-3.719	0
(flanking)	10.003	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

19

Strand

1

Original gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered gDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Original cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGA

Altered cDNA sequence snippet

GAGAGCAGCCTCATTCTGGCCGTCACGCCCGCCAACATGGA

Wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQVIRRG WLTINNISLM KGGSKEYWFV
LTAESLSWYK DEEEKEKKYM LPLDNLKIRD VEKGFMSNKH VFAIFNTEQR NVYKDLRQIE
LACDSQEDVD SWKASFLRAG VYPEKDQAEN EDGAQENTFS MDPQLERQVE TIRNLVDSYV
AIINKSIRDL MPKTIMHLMI NNTKAFIHHE LLAYLYSSAD QSSLMEESAD QAQRRDDMLR
MYHALKEALN IIGDISTSTV STPVPPPVDD TWLQSASSHS PTPQRRPVSS IHPPGRPPAV
RGPTPGPPLI PVPVGAAASF SAPPIPSRPG PQSVFANSDL FPAPPQIPSR PVRIPPGIPP
GVPSRRPPAA PSRPTIIRPA EPSLLD*

Mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQVIRRG WLTINNISLM KGGSKEYWFV
LTAESLSWYK DEEEKEKKYM LPLDNLKIRD VEKGFMSNKH VFAIFNTEQR NVYKDLRQIE
LACDSQEDVD SWKASFLRAG VYPEKDQAEN EDGAQENTFS MDPQLERQVE TIRNLVDSYV
AIINKSIRDL MPKTIMHLMI NNTKAFIHHE LLAYLYSSAD QSSLMEESAD QAQRRDDMLR
MYHALKEALN IIGDISTSTV STPVPPPVDD TWLQSASSHS PTPQRRPVSS IHPPGRPPAV
RGPTPGPPLI PVPVGAAASF SAPPIPSRPG PQSVFANSDL FPAPPQIPSR PVRIPPGIPP
GVPSRRPPAA PSRPTIIRPA EPSLLD*

Position of stopcodon in wt / mu CDS

2601 / 2601

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

867 / 867

Position of stopcodon in wt / mu cDNA

2636 / 2636

Position of start ATG in wt / mu cDNA

36 / 36

Last intron/exon boundary

2566

Theoretical NMD boundary in CDS

2480

Length of CDS

2601

Coding sequence (CDS) position

519

cDNA position

554

gDNA position

57782

Chromosomal position

10775836

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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