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: ENST00000415807
Querying Taster for transcript #2: ENST00000336824
Querying Taster for transcript #3: ENST00000416957
MT speed 0.09 s - this script 2.466793 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000415807(MANE Select)	FNDC3B	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000336824	FNDC3B	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000416957	FNDC3B	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

3:172212591G>A_1_ENST00000415807

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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

Chr3:172212591G>A (GRCh38)

Gene symbol

FNDC3B

Gene constraints

LOEUF: 0.16, LOF (oe): 0.10, misssense (oe): 0.79, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000415807.7

Genbank transcript ID

NM_022763 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.188-14280G>A
g.173014G>A

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	rs4380442
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	14146	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.449	0
	-1.33	0
(flanking)	-0.688	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

3

Strand

1

Original gDNA sequence snippet

GAAGAATTTAGAAATTGTCAGCTAACACCTGTTTTCTAGAA

Altered gDNA sequence snippet

GAAGAATTTAGAAATTGTCAACTAACACCTGTTTTCTAGAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYVTMMMTDQ IPLELPPLLN GEVAMMPHLV NGDAAQQVIL VQVNPGETFT IRAEDGTLQC
IQGPAEVPMM SPNGSIPPIH VPPGYISQVI EDSTGVRRVV VTPQSPECYP PSYPSAMSPT
HHLPPYLTHH PHFIHNSHTA YYPPVTGPGD MPPQFFPQHH LPHTIYGEQE IIPFYGMSTY
ITREDQYSKP PHKKLKDRQI DRQNRLNSPP SSIYKSSCTT VYNGYGKGHS GGSGGGGSGS
GPGIKKTERR ARSSPKSNDS DLQEYELEVK RVQDILSGIE KPQVSNIQAR AVVLSWAPPV
GLSCGPHSGL SFPYSYEVAL SDKGRDGKYK IIYSGEELEC NLKDLRPATD YHVRVYAMYN
SVKGSCSEPV SFTTHSCAPE CPFPPKLAHR SKSSLTLQWK APIDNGSKIT NYLLEWDEGK
RNSGFRQCFF GSQKHCKLTK LCPAMGYTFR LAARNDIGTS GYSQEVVCYT LGNIPQMPSA
PRLVRAGITW VTLQWSKPEG CSPEEVITYT LEIQEDENDN LFHPKYTGED LTCTVKNLKR
STQYKFRLTA SNTEGKSCPS EVLVCTTSPD RPGPPTRPLV KGPVTSHGFS VKWDPPKDNG
GSEILKYLLE ITDGNSEANQ WEVAYSGSAT EYTFTHLKPG TLYKLRACCI STGGHSQCSE
SLPVRTLSIA PGQCRPPRVL GRPKHKEVHL EWDVPASESG CEVSEYSVEM TEPEDVASEV
YHGPELECTV GNLLPGTVYR FRVRALNDGG YGPYSDVSEI TTAAGPPGQC KAPCISCTPD
GCVLVGWESP DSSGADISEY RLEWGEDEES LELIYHGTDT RFEIRDLLPA AQYCCRLQAF
NQAGAGPYSE LVLCQTPASA PDPVSTLCVL EEEPLDAYPD SPSACLVLNW EEPCNNGSEI
LAYTIDLGDT SITVGNTTMH VMKDLLPETT YRIRIQAINE IGAGPFSQFI KAKTRPLPPL
PPRLECAAAG PQSLKLKWGD SNSKTHAAED IVYTLQLEDR NKRFISIYRG PSHTYKVQRL
TEFTCYSFRI QAASEAGEGP FSETYTFSTT KSVPPTIKAP RVTQLEGNSC EILWETVPSM
KGDPVNYILQ VLVGRESEYK QVYKGEEATF QISGLQTNTD YRFRVCACRR CLDTSQELSG
AFSPSAAFVL QRSEVMLTGD MGSLDDPKMK SMMPTDEQFA AIIVLGFATL SILFAFILQY
FLMK*

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

223 / 223

Last intron/exon boundary

3525

Theoretical NMD boundary in CDS

3252

Length of CDS

3615

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

173014

Chromosomal position

172212591

Speed

0.05 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:

3:172212591G>A_2_ENST00000336824

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

Chr3:172212591G>A (GRCh38)

Gene symbol

FNDC3B

Gene constraints

LOEUF: 0.16, LOF (oe): 0.10, misssense (oe): 0.79, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000336824.8

Genbank transcript ID

NM_001135095 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.188-14280G>A
g.173014G>A

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	rs4380442
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	14146	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.449	0
	-1.33	0
(flanking)	-0.688	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

3

Strand

1

Original gDNA sequence snippet

GAAGAATTTAGAAATTGTCAGCTAACACCTGTTTTCTAGAA

Altered gDNA sequence snippet

GAAGAATTTAGAAATTGTCAACTAACACCTGTTTTCTAGAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYVTMMMTDQ IPLELPPLLN GEVAMMPHLV NGDAAQQVIL VQVNPGETFT IRAEDGTLQC
IQGPAEVPMM SPNGSIPPIH VPPGYISQVI EDSTGVRRVV VTPQSPECYP PSYPSAMSPT
HHLPPYLTHH PHFIHNSHTA YYPPVTGPGD MPPQFFPQHH LPHTIYGEQE IIPFYGMSTY
ITREDQYSKP PHKKLKDRQI DRQNRLNSPP SSIYKSSCTT VYNGYGKGHS GGSGGGGSGS
GPGIKKTERR ARSSPKSNDS DLQEYELEVK RVQDILSGIE KPQVSNIQAR AVVLSWAPPV
GLSCGPHSGL SFPYSYEVAL SDKGRDGKYK IIYSGEELEC NLKDLRPATD YHVRVYAMYN
SVKGSCSEPV SFTTHSCAPE CPFPPKLAHR SKSSLTLQWK APIDNGSKIT NYLLEWDEGK
RNSGFRQCFF GSQKHCKLTK LCPAMGYTFR LAARNDIGTS GYSQEVVCYT LGNIPQMPSA
PRLVRAGITW VTLQWSKPEG CSPEEVITYT LEIQEDENDN LFHPKYTGED LTCTVKNLKR
STQYKFRLTA SNTEGKSCPS EVLVCTTSPD RPGPPTRPLV KGPVTSHGFS VKWDPPKDNG
GSEILKYLLE ITDGNSEANQ WEVAYSGSAT EYTFTHLKPG TLYKLRACCI STGGHSQCSE
SLPVRTLSIA PGQCRPPRVL GRPKHKEVHL EWDVPASESG CEVSEYSVEM TEPEDVASEV
YHGPELECTV GNLLPGTVYR FRVRALNDGG YGPYSDVSEI TTAAGPPGQC KAPCISCTPD
GCVLVGWESP DSSGADISEY RLEWGEDEES LELIYHGTDT RFEIRDLLPA AQYCCRLQAF
NQAGAGPYSE LVLCQTPASA PDPVSTLCVL EEEPLDAYPD SPSACLVLNW EEPCNNGSEI
LAYTIDLGDT SITVGNTTMH VMKDLLPETT YRIRIQAINE IGAGPFSQFI KAKTRPLPPL
PPRLECAAAG PQSLKLKWGD SNSKTHAAED IVYTLQLEDR NKRFISIYRG PSHTYKVQRL
TEFTCYSFRI QAASEAGEGP FSETYTFSTT KSVPPTIKAP RVTQLEGNSC EILWETVPSM
KGDPVNYILQ VLVGRESEYK QVYKGEEATF QISGLQTNTD YRFRVCACRR CLDTSQELSG
AFSPSAAFVL QRSEVMLTGD MGSLDDPKMK SMMPTDEQFA AIIVLGFATL SILFAFILQY
FLMK*

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

100 / 100

Last intron/exon boundary

3402

Theoretical NMD boundary in CDS

3252

Length of CDS

3615

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

173014

Chromosomal position

172212591

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:

3:172212591G>A_3_ENST00000416957

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

Chr3:172212591G>A (GRCh38)

Gene symbol

FNDC3B

Gene constraints

LOEUF: 0.16, LOF (oe): 0.10, misssense (oe): 0.79, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000416957.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.188-14280G>A
g.173014G>A

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	rs4380442
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	14146	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.449	0
	-1.33	0
(flanking)	-0.688	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

3

Strand

1

Original gDNA sequence snippet

GAAGAATTTAGAAATTGTCAGCTAACACCTGTTTTCTAGAA

Altered gDNA sequence snippet

GAAGAATTTAGAAATTGTCAACTAACACCTGTTTTCTAGAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYVTMMMTDQ IPLELPPLLN GEVAMMPHLV NGDAAQQVIL VQVNPGETFT IRAEDGTLQC
IQGPAEVPMM SPNGSIPPIH VPPGYISQVI EDSTGVRRVV VTPQSPECYP PSYPSAMSPT
HHLPPYLTHH PHFIHNSHTA YYPPVTGPGD MPPQFFPQHH LPHTIYGEQE IIPFYGMSTY
ITREDQYSKP PHKKLKDRQI DRQNRLNSPP SSIYKSSCTT VYNGYGKGHS GGSGGGGSGS
GPGIKKTERR ARSSPKSNDS DLQEYELEVK RVQDILSGIE KPQVSNIQAR AVVLSWAPPV
GLSCGPHSGL SFPYSYEVAL SDKGRDGKYK IIYSGEELEC NLKDLRPATD YHVRVYAMYN
SVKGSCSEPV SFTTHSCAPE CPFPPKLAHR SKSSLTLQWK APIDNGSKIT NYLLEWDEGK
RNSGFRQCFF GSQKHCKLTK LCPAMGYTFR LAARNDIGTS GYSQEVVCYT LGNIPQMPSA
PRLVRAGITW VTLQWSKPEG CSPEEVITYT LEIQEDENDN LFHPKYTGED LTCTVKNLKR
STQYKFRLTA SNTEGKSCPS EVLVCTTSPD RPGPPTRPLV KGPVTSHGFS VKWDPPKDNG
GSEILKYLLE ITDGNSEANQ WEVAYSGSAT EYTFTHLKPG TLYKLRACCI STGGHSQCSE
SLPVRTLSIA PGQCRPPRVL GRPKHKEVHL EWDVPASESG CEVSEYSVEM TEPEDVASEV
YHGPELECTV GNLLPGTVYR FRVRALNDGG YGPYSDVSEI TTAAGPPGQC KAPCISCTPD
GCVLVGWESP DSSGADISEY RLEWGEDEES LELIYHGTDT RFEIRDLLPA AQYCCRLQAF
NQAGAGPYSE LVLCQTPASA PDPVSTLCVL EEEPLDAYPD SPSACLVLNW EEPCNNGSEI
LAYTIDLGDT SITVGNTTMH VMKDLLPETT YRIRIQAINE IGAGPFSQFI KAKTRPLPPL
PPRLECAAAG PQSLKLKWGD SNSKTHAAED IVYTLQLEDR NKRFISIYRG PSHTYKVQRL
TEFTCYSFRI QAASEAGEGP FSETYTFSTT KSVPPTIKAP RVTQLEGNSC EILWETVPSM
KGDPVNYILQ VLVGRESEYK QVYKGEEATF QISGLQTNTD YRFRVCACRR CLDTSQELSG
AFSPSAAFVL QRSEVMLTGD MGSLDDPKMK SMMPTDEQFA AIIVLGFATL SILFAFILQY
FLMK*

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

64 / 64

Last intron/exon boundary

3366

Theoretical NMD boundary in CDS

3252

Length of CDS

3615

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

173014

Chromosomal position

172212591

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