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: ENST00000699596
Querying Taster for transcript #2: ENST00000699597
Querying Taster for transcript #3: ENST00000699605
Querying Taster for transcript #4: ENST00000003084
Querying Taster for transcript #5: ENST00000649781
Querying Taster for transcript #6: ENST00000649406
Querying Taster for transcript #7: ENST00000648260
Querying Taster for transcript #8: ENST00000699602
MT speed 0.4 s - this script 2.872431 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000699596	CFTR	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000699597	CFTR	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000699605	CFTR	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000699602	CFTR	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000648260	CFTR	Benign	5\|195	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000649406	CFTR	Benign	23\|177	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000649781	CFTR	Benign	29\|171	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000003084(MANE Select)	CFTR	Benign	31\|169	without_aae	No	Insertion	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

7:117548606A>ATG_1_ENST00000699596

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

Chr7:117548606_117548607insTG (GRCh38)

Gene symbol

CFTR

Gene constraints

no data

Ensembl transcript ID

ENST00000699596.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.1210-35_1210-34insTG
g.261487_261488insTG

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	rs3832534
gnomAD	homozygous (TG/TG)	heterozygous	allele carriers
	4168	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.579	0.012
(flanking)	0.065	0.019

?

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

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTG

Altered gDNA sequence snippet

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK
TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG
KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEVR NYVKTF*

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

108 / 108

Last intron/exon boundary

1499

Theoretical NMD boundary in CDS

1341

Length of CDS

1611

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

261487 / 261488

Chromosomal position

117548606 / 117548607

Speed

0.03 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:

7:117548606A>ATG_2_ENST00000699597

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

Chr7:117548606_117548607insTG (GRCh38)

Gene symbol

CFTR

Gene constraints

no data

Ensembl transcript ID

ENST00000699597.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.1210-35_1210-34insTG
g.261487_261488insTG

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	rs3832534
gnomAD	homozygous (TG/TG)	heterozygous	allele carriers
	4168	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.579	0.012
(flanking)	0.065	0.019

?

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

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTG

Altered gDNA sequence snippet

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK
TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GADFTSNGDY GRTGAFRG*

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

108 / 108

Last intron/exon boundary

1494

Theoretical NMD boundary in CDS

1336

Length of CDS

1437

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

261487 / 261488

Chromosomal position

117548606 / 117548607

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:

7:117548606A>ATG_3_ENST00000699605

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

Chr7:117548606_117548607insTG (GRCh38)

Gene symbol

CFTR

Gene constraints

no data

Ensembl transcript ID

ENST00000699605.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.966+6498_966+6499insTG
g.261487_261488insTG

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	rs3832534
gnomAD	homozygous (TG/TG)	heterozygous	allele carriers
	4168	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.579	0.012
(flanking)	0.065	0.019

?

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

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTG

Altered gDNA sequence snippet

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFYGIFLYLG EVTKAVQPLL LGRIIASYDP DNKEERSIAI YLGIGLCLLF IVRTLLLHPA
IFGLHHIGMQ MRIAMFSLIY KKTLKLSSRV LDKISIGQLV SLLSNNLNKF DEGLALAHFV
WIAPLQVALL MGLIWELLQA SAFCGLGFLI VLALFQAGLG RMMMKYRDQR AGKISERLVI
TSEMIENIQS VKAYCWEEAM EKMIENLRQT ELKLTRKAAY VRYFNSSAFF FSGFFVVFLS
VLPYALIKGI ILRKIFTTIS FCIVLRMAVT RQFPWAVQTW YDSLGAINKI QDFLQKQEYK
TLEYNLTTTE VVMENVTAFW EETSLLMVIM GELEPSEGKI KHSGRISFCS QFSWIMPGTI
KENIIFGVSY DEYRYRSVIK ACQLEEDISK FAEKDNIVLG EGGITLSGGQ RARISLARAV
YKDADLYLLD SPFGYLDVLT EKEIFESCVC KLMANKTRIL VTSKMEHLKK ADKILILHEG
SSYFYGTFSE LQNLQPDFSS KLMGCDSFDQ FSAERRNSIL TETLHRFSLE GDAPVSWTET
KKQSFKQTGE FGEKRKNSIL NPINSIRKFS IVQKTPLQMN GIEEDSDEPL ERRLSLVPDS
EQGEAILPRI SVISTGPTLQ ARRRQSVLNL MTHSVNQGQN IHRKTTASTR KVSLAPQANL
TELDIYSRRL SQETGLEISE EINEEDLKEC FFDDMESIPA VTTWNTYLRY ITVHKSLIFV
LIWCLVIFLA EVAASLVVLW LLGNTPLQDK GNSTHSRNNS YAVIITSTSS YYVFYIYVGV
ADTLLAMGFF RGLPLVHTLI TVSKILHHKM LHSVLQAPMS TLNTLKAGGI LNRFSKDIAI
LDDLLPLTIF DFIQLLLIVI GAIAVVAVLQ PYIFVATVPV IVAFIMLRAY FLQTSQQLKQ
LESEGRSPIF THLVTSLKGL WTLRAFGRQP YFETLFHKAL NLHTANWFLY LSTLRWFQMR
IEMIFVIFFI AVTFISILTT GEGEGRVGII LTLAMNIMST LQWAVNSSID VDSLMRSVSR
VFKFIDMPTE GKPTKSTKPY KNGQLSKVMI IENSHVKKDD IWPSGGQMTV KDLTAKYTEG
GNAILENISF SISPGQRVGL LGRTGSGKST LLSAFLRLLN TEGEIQIDGV SWDSITLQQW
RKAFGVIPQK VFIFSGTFRK NLDPYEQWSD QEIWKVADEV GLRSVIEQFP GKLDFVLVDG
GCVLSHGHKQ LMCLARSVLS KAKILLLDEP SAHLDPVTYQ IIRRTLKQAF ADCTVILCEH
RIEAMLECQQ FLVIEENKVR QYDSIQKLLN ERSLFRQAIS PSDRVKLFPH RNSSKCKSKP
QIAALKEETE EEVQDTRL*

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

423 / 423

Last intron/exon boundary

4238

Theoretical NMD boundary in CDS

3765

Length of CDS

4017

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

261487 / 261488

Chromosomal position

117548606 / 117548607

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:

7:117548606A>ATG_8_ENST00000699602

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

Chr7:117548606_117548607insTG (GRCh38)

Gene symbol

CFTR

Gene constraints

no data

Ensembl transcript ID

ENST00000699602.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.1210-35_1210-34insTG
g.261487_261488insTG

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	rs3832534
gnomAD	homozygous (TG/TG)	heterozygous	allele carriers
	4168	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.579	0.012
(flanking)	0.065	0.019

?

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

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTG

Altered gDNA sequence snippet

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK
TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG
KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV
LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR
ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS
ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ
MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG
QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI
PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN
NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP
MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV
PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK
ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGRVGII LTLAMNIMST
LQWAVNSSID VDSLMRSVSR VFKFIDMPTE GKPTKSTKPY KNGQLSKVMI IENSHVKKDD
IWPSGGQMTV KDLTAKYTEG GNAILENISF SISPGQRVGL LGRTGSGKST LLSAFLRLLN
TEGEIQIDGV SWDSITLQQW RKAFGVIPQK VFIFSGTFRK NLDPYEQWSD QEIWKVADEV
GLRSVIEQFP GKLDFVLVDG GCVLSHGHKQ LMCLARSVLS KAKILLLDEP SAHLDPVTYQ
IIRRTLKQAF ADCTVILCEH RIEAMLECQQ FLVIEENKVR QYDSIQKLLN ERSLFRQAIS
PSDRVKLFPH RNSSKCKSKP QIAALKEETE EEVQDTRL*

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

108 / 108

Last intron/exon boundary

4343

Theoretical NMD boundary in CDS

4185

Length of CDS

4437

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

261487 / 261488

Chromosomal position

117548606 / 117548607

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:

7:117548606A>ATG_7_ENST00000648260

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 5|195 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:117548606_117548607insTG (GRCh38)

Gene symbol

CFTR

Gene constraints

LOEUF: 1.29, LOF (oe): 1.05, misssense (oe): 1.14, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000648260.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.1209+6498_1209+6499insTG
g.261487_261488insTG

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	rs3832534
gnomAD	homozygous (TG/TG)	heterozygous	allele carriers
	4168	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.579	0.012
(flanking)	0.065	0.019

?

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

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTG

Altered gDNA sequence snippet

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK
IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEVAA SLVVLWLLGN
TPLQDKGNST HSRNNSYAVI ITSTSSYYVF YIYVGVADTL LAMGFFRGLP LVHTLITVSK
ILHHKMLHSV LQAPMSTLNT LKAGGILNRF SKDIAILDDL LPLTIFDFIQ LLLIVIGAIA
VVAVLQPYIF VATVPVIVAF IMLRAYFLQT SQQLKQLESE GRSPIFTHLV TSLKGLWTLR
AFGRQPYFET LFHKALNLHT ANWFLYLSTL RWFQMRIEMI FVIFFIAVTF ISILTTGEGE
GRVGIILTLA MNIMSTLQWA VNSSIDVDSL MRSVSRVFKF IDMPTEGKPT KSTKPYKNGQ
LSKVMIIENS HVKKDDIWPS GGQMTVKDLT AKYTEGGNAI LENISFSISP GQRVRFEHCL
LC*

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

85 / 85

Last intron/exon boundary

2334

Theoretical NMD boundary in CDS

2199

Length of CDS

2529

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

261487 / 261488

Chromosomal position

117548606 / 117548607

Speed

0.03 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:

7:117548606A>ATG_6_ENST00000649406

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 23|177 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:117548606_117548607insTG (GRCh38)

Gene symbol

CFTR

Gene constraints

LOEUF: 1.19, LOF (oe): 1.00, misssense (oe): 1.10, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000649406.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.1209+6498_1209+6499insTG
g.261487_261488insTG

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	rs3832534
gnomAD	homozygous (TG/TG)	heterozygous	allele carriers
	4168	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.579	0.012
(flanking)	0.065	0.019

?

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

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTG

Altered gDNA sequence snippet

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK
IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIVL
GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI
LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI
LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM
NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ
NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP
AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN
SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM
STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP
VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA
LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS
TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD
DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVR FEHCLLC*

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

85 / 85

Last intron/exon boundary

3369

Theoretical NMD boundary in CDS

3234

Length of CDS

3564

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

261487 / 261488

Chromosomal position

117548606 / 117548607

Speed

0.03 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:

7:117548606A>ATG_5_ENST00000649781

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 29|171 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:117548606_117548607insTG (GRCh38)

Gene symbol

CFTR

Gene constraints

LOEUF: 1.17, LOF (oe): 1.00, misssense (oe): 1.09, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000649781.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.1209+6498_1209+6499insTG
g.261487_261488insTG

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	rs3832534
gnomAD	homozygous (TG/TG)	heterozygous	allele carriers
	4168	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.579	0.012
(flanking)	0.065	0.019

?

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

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTG

Altered gDNA sequence snippet

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK
IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIVL
GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI
LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI
LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM
NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ
NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP
AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN
SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM
STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP
VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA
LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS
TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD
DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVG LLGRTGSGKS TLLSAFLRLL
NTEGEIQIDG VSWDSITLQQ WRKAFGVIPQ KVFIFSGTFR KNLDPYEQWS DQEIWKVADE
VGLRSVIEQF PGKLDFVLVD GGCVLSHGHK QLMCLARSVL SKAKILLLDE PSAHLDPVTY
QIIRRTLKQA FADCTVILCE HRIEAMLECQ QFLVIEENKV RQYDSIQKLL NERSLFRQAI
SPSDRVKLFP HRNSSKCKSK PQIAALKEET EEEVQDTRL*

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

85 / 85

Last intron/exon boundary

4143

Theoretical NMD boundary in CDS

4008

Length of CDS

4260

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

261487 / 261488

Chromosomal position

117548606 / 117548607

Speed

0.03 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:

7:117548606A>ATG_4_ENST00000003084

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 31|169 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:117548606_117548607insTG (GRCh38)

Gene symbol

CFTR

Gene constraints

LOEUF: 1.15, LOF (oe): 0.99, misssense (oe): 1.08, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000003084.11

Genbank transcript ID

NM_000492 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.1210-35_1210-34insTG
g.261487_261488insTG

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	rs3832534
gnomAD	homozygous (TG/TG)	heterozygous	allele carriers
	4168	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.579	0.012
(flanking)	0.065	0.019

?

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

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTG

Altered gDNA sequence snippet

AACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK
TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG
KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV
LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR
ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS
ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ
MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG
QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI
PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN
NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP
MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV
PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK
ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM
STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK
DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL
LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD
EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT
YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA
ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL *

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

71 / 71

Last intron/exon boundary

4312

Theoretical NMD boundary in CDS

4191

Length of CDS

4443

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

261487 / 261488

Chromosomal position

117548606 / 117548607

Speed

0.22 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