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: ENST00000359540
Querying Taster for transcript #2: ENST00000305877
MT speed 0.22 s - this script 2.652946 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000359540	BCR	Deleterious	86\|14	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000305877(MANE Select)	BCR	Deleterious	87\|13	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

22:23180998C>G_1_ENST00000359540

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 86|14 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:23180998C>G (GRCh38)

Gene symbol

BCR

Gene constraints

LOEUF: 0.60, LOF (oe): 0.48, misssense (oe): 1.02, synonymous (oe): 1.18 ? (gnomAD)

Ensembl transcript ID

ENST00000359540.7

Genbank transcript ID

NM_021574 (by similarity)

UniProt / AlphaMissense peptide

BCR_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.38C>G
g.1295C>G

AA changes

AAE:	A13G	?
Score:	60

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs199561166
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		13	V	D	P	V	G	F	A	E	A	W	K	A	Q	F	P	D	S	E	P	P	R	M	E	L
mutated	not conserved	13	V	D	P	V	G	F	A	E	A	W	K	G	Q	F	P	D	S	E	P	P	R	M	E
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature
1	426	REGION	lost
1	1271	CHAIN	lost
4	14	HELIX	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.008	1
	4.714	0.997
(flanking)	-0.443	0.539

?

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

Yes

Chromosome

22

Strand

1

Original gDNA sequence snippet

CTTCGCGGAGGCGTGGAAGGCGCAGTTCCCGGACTCAGAGC

Altered gDNA sequence snippet

CTTCGCGGAGGCGTGGAAGGGGCAGTTCCCGGACTCAGAGC

Original cDNA sequence snippet

CTTCGCGGAGGCGTGGAAGGCGCAGTTCCCGGACTCAGAGC

Altered cDNA sequence snippet

CTTCGCGGAGGCGTGGAAGGGGCAGTTCCCGGACTCAGAGC

Wildtype AA sequence

MVDPVGFAEA WKAQFPDSEP PRMELRSVGD IEQELERCKA SIRRLEQEVN QERFRMIYLQ
TLLAKEKKSY DRQRWGFRRA AQAPDGASEP RASASRPQPA PADGADPPPA EEPEARPDGE
GSPGKARPGT ARRPGAAASG ERDDRGPPAS VAALRSNFER IRKGHGQPGA DAEKPFYVNV
EFHHERGLVK VNDKEVSDRI SSLGSQAMQM ERKKSQHGAG SSVGDASRPP YRGRSSESSC
GVDGDYEDAE LNPRFLKDNL IDANGGSRPP WPPLEYQPYQ SIYVGGMMEG EGKGPLLRSQ
STSEQEKRLT WPRRSYSPRS FEDCGGGYTP DCSSNENLTS SEEDFSSGQS SRVSPSPTTY
RMFRDKSRSP SQNSQQSFDS SSPPTPQCHK RHRHCPVVVS EATIVGVRKT GQIWPNDGEG
AFHGDADGSF GTPPGYGCAA DRAEEQRRHQ DGLPYIDDSP SSSPHLSSKG RGSRDALVSG
ALESTKASEL DLEKGLEMRK WVLSGILASE ETYLSHLEAL LLPMKPLKAA ATTSQPVLTS
QQIETIFFKV PELYEIHKEF YDGLFPRVQQ WSHQQRVGDL FQKLASQLGV YRAFVDNYGV
AMEMAEKCCQ ANAQFAEISE NLRARSNKDA KDPTTKNSLE TLLYKPVDRV TRSTLVLHDL
LKHTPASHPD HPLLQDALRI SQNFLSSINE EITPRRQSMT VKKGEHRQLL KDSFMVELVE
GARKLRHVFL FTDLLLCTKL KKQSGGKTQQ YDCKWYIPLT DLSFQMVDEL EAVPNIPLVP
DEELDALKIK ISQIKNDIQR EKRANKGSKA TERLKKKLSE QESLLLLMSP SMAFRVHSRN
GKSYTFLISS DYERAEWREN IREQQKKCFR SFSLTSVELQ MLTNSCVKLQ TVHSIPLTIN
KEDDESPGLY GFLNVIVHSA TGFKQSSNLY CTLEVDSFGY FVNKAKTRVY RDTAEPNWNE
LDPQALQDRD WQRTVIAMNG IEVKLSVKFN SREFSLKRMP SRKQTGVFGV KIAVVTKRER
SKVPYIVRQC VEEIERRGME EVGIYRVSGV ATDIQALKAA FDVNNKDVSV MMSEMDVNAI
AGTLKLYFRE LPEPLFTDEF YPNFAEGIAL SDPVAKESCM LNLLLSLPEA NLLTFLFLLD
HLKRVAEKEA VNKMSLHNLA TVFGPTLLRP SEKESKLPAN PSQPITMTDS WSLEVMSQVQ
VLLYFLQLEA IPAPDSKRQS ILFSTEV*

Mutated AA sequence

MVDPVGFAEA WKGQFPDSEP PRMELRSVGD IEQELERCKA SIRRLEQEVN QERFRMIYLQ
TLLAKEKKSY DRQRWGFRRA AQAPDGASEP RASASRPQPA PADGADPPPA EEPEARPDGE
GSPGKARPGT ARRPGAAASG ERDDRGPPAS VAALRSNFER IRKGHGQPGA DAEKPFYVNV
EFHHERGLVK VNDKEVSDRI SSLGSQAMQM ERKKSQHGAG SSVGDASRPP YRGRSSESSC
GVDGDYEDAE LNPRFLKDNL IDANGGSRPP WPPLEYQPYQ SIYVGGMMEG EGKGPLLRSQ
STSEQEKRLT WPRRSYSPRS FEDCGGGYTP DCSSNENLTS SEEDFSSGQS SRVSPSPTTY
RMFRDKSRSP SQNSQQSFDS SSPPTPQCHK RHRHCPVVVS EATIVGVRKT GQIWPNDGEG
AFHGDADGSF GTPPGYGCAA DRAEEQRRHQ DGLPYIDDSP SSSPHLSSKG RGSRDALVSG
ALESTKASEL DLEKGLEMRK WVLSGILASE ETYLSHLEAL LLPMKPLKAA ATTSQPVLTS
QQIETIFFKV PELYEIHKEF YDGLFPRVQQ WSHQQRVGDL FQKLASQLGV YRAFVDNYGV
AMEMAEKCCQ ANAQFAEISE NLRARSNKDA KDPTTKNSLE TLLYKPVDRV TRSTLVLHDL
LKHTPASHPD HPLLQDALRI SQNFLSSINE EITPRRQSMT VKKGEHRQLL KDSFMVELVE
GARKLRHVFL FTDLLLCTKL KKQSGGKTQQ YDCKWYIPLT DLSFQMVDEL EAVPNIPLVP
DEELDALKIK ISQIKNDIQR EKRANKGSKA TERLKKKLSE QESLLLLMSP SMAFRVHSRN
GKSYTFLISS DYERAEWREN IREQQKKCFR SFSLTSVELQ MLTNSCVKLQ TVHSIPLTIN
KEDDESPGLY GFLNVIVHSA TGFKQSSNLY CTLEVDSFGY FVNKAKTRVY RDTAEPNWNE
LDPQALQDRD WQRTVIAMNG IEVKLSVKFN SREFSLKRMP SRKQTGVFGV KIAVVTKRER
SKVPYIVRQC VEEIERRGME EVGIYRVSGV ATDIQALKAA FDVNNKDVSV MMSEMDVNAI
AGTLKLYFRE LPEPLFTDEF YPNFAEGIAL SDPVAKESCM LNLLLSLPEA NLLTFLFLLD
HLKRVAEKEA VNKMSLHNLA TVFGPTLLRP SEKESKLPAN PSQPITMTDS WSLEVMSQVQ
VLLYFLQLEA IPAPDSKRQS ILFSTEV*

Position of stopcodon in wt / mu CDS

3684 / 3684

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

1228 / 1228

Position of stopcodon in wt / mu cDNA

4280 / 4280

Position of start ATG in wt / mu cDNA

597 / 597

Last intron/exon boundary

4190

Theoretical NMD boundary in CDS

3543

Length of CDS

3684

Coding sequence (CDS) position

38

cDNA position

634

gDNA position

1295

Chromosomal position

23180998

Speed

0.11 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:

22:23180998C>G_2_ENST00000305877

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 87|13 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:23180998C>G (GRCh38)

Gene symbol

BCR

Gene constraints

LOEUF: 0.61, LOF (oe): 0.49, misssense (oe): 1.01, synonymous (oe): 1.17 ? (gnomAD)

Ensembl transcript ID

ENST00000305877.13

Genbank transcript ID

NM_004327 (exact from MANE)

UniProt / AlphaMissense peptide

BCR_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.38C>G
g.1295C>G

AA changes

AAE:	A13G	?
Score:	60

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs199561166
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		13	V	D	P	V	G	F	A	E	A	W	K	A	Q	F	P	D	S	E	P	P	R	M	E	L
mutated	not conserved	13	V	D	P	V	G	F	A	E	A	W	K	G	Q	F	P	D	S	E	P	P	R	M	E
Ptroglodytes	all identical	13	V	D	P	V	G	F	A	E	A	W	K	A	Q	F	P	D	S	E	P	P	R	M	E
Mmulatta	all identical	13	V	D	P	V	G	F	A	E	A	W	K	A	Q	F	P	D	S	E	P	P	R	M	E
Fcatus	all identical	13	V	D	P	V	G	F	A	E	A	W	K	A	Q	F	P	D	S	E	P	P	R	M	E
Mmusculus	all identical	13	V	D	S	V	G	F	A	E	A	W	R	A	Q	F	P	D	S	E	P	P	R	M	E
Ggallus	all identical	13	V	D	P	V	G	F	V	E	A	W	K	A	Q	F	A	D	S	E	P	P	K	M	E
Trubripes	all identical	13	V	E	P	V	G	F	V	E	A	W	R	A	Q	F	P	E	S	D	P	P	Y	M	D
Drerio	no homologue
Dmelanogaster	not conserved	13						F	Q	R	L	W	M	Q	R	F	P	Q	S	S	-	-	-	L	S
Celegans	no homologue
Xtropicalis	all identical	11					G	F	A	E	A	W	R	A	Q	F	P	D	A	E	P	P	R	M	E

Protein features

Start (aa)	End (aa)	Feature
1	426	REGION	lost
1	1271	CHAIN	lost
4	14	HELIX	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.008	1
	4.714	0.997
(flanking)	-0.443	0.539

?

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

Yes

Chromosome

22

Strand

1

Original gDNA sequence snippet

CTTCGCGGAGGCGTGGAAGGCGCAGTTCCCGGACTCAGAGC

Altered gDNA sequence snippet

CTTCGCGGAGGCGTGGAAGGGGCAGTTCCCGGACTCAGAGC

Original cDNA sequence snippet

CTTCGCGGAGGCGTGGAAGGCGCAGTTCCCGGACTCAGAGC

Altered cDNA sequence snippet

CTTCGCGGAGGCGTGGAAGGGGCAGTTCCCGGACTCAGAGC

Wildtype AA sequence

MVDPVGFAEA WKAQFPDSEP PRMELRSVGD IEQELERCKA SIRRLEQEVN QERFRMIYLQ
TLLAKEKKSY DRQRWGFRRA AQAPDGASEP RASASRPQPA PADGADPPPA EEPEARPDGE
GSPGKARPGT ARRPGAAASG ERDDRGPPAS VAALRSNFER IRKGHGQPGA DAEKPFYVNV
EFHHERGLVK VNDKEVSDRI SSLGSQAMQM ERKKSQHGAG SSVGDASRPP YRGRSSESSC
GVDGDYEDAE LNPRFLKDNL IDANGGSRPP WPPLEYQPYQ SIYVGGMMEG EGKGPLLRSQ
STSEQEKRLT WPRRSYSPRS FEDCGGGYTP DCSSNENLTS SEEDFSSGQS SRVSPSPTTY
RMFRDKSRSP SQNSQQSFDS SSPPTPQCHK RHRHCPVVVS EATIVGVRKT GQIWPNDGEG
AFHGDADGSF GTPPGYGCAA DRAEEQRRHQ DGLPYIDDSP SSSPHLSSKG RGSRDALVSG
ALESTKASEL DLEKGLEMRK WVLSGILASE ETYLSHLEAL LLPMKPLKAA ATTSQPVLTS
QQIETIFFKV PELYEIHKEF YDGLFPRVQQ WSHQQRVGDL FQKLASQLGV YRAFVDNYGV
AMEMAEKCCQ ANAQFAEISE NLRARSNKDA KDPTTKNSLE TLLYKPVDRV TRSTLVLHDL
LKHTPASHPD HPLLQDALRI SQNFLSSINE EITPRRQSMT VKKGEHRQLL KDSFMVELVE
GARKLRHVFL FTDLLLCTKL KKQSGGKTQQ YDCKWYIPLT DLSFQMVDEL EAVPNIPLVP
DEELDALKIK ISQIKNDIQR EKRANKGSKA TERLKKKLSE QESLLLLMSP SMAFRVHSRN
GKSYTFLISS DYERAEWREN IREQQKKCFR SFSLTSVELQ MLTNSCVKLQ TVHSIPLTIN
KEDDESPGLY GFLNVIVHSA TGFKQSSNLY CTLEVDSFGY FVNKAKTRVY RDTAEPNWNE
EFEIELEGSQ TLRILCYEKC YNKTKIPKED GESTDRLMGK GQVQLDPQAL QDRDWQRTVI
AMNGIEVKLS VKFNSREFSL KRMPSRKQTG VFGVKIAVVT KRERSKVPYI VRQCVEEIER
RGMEEVGIYR VSGVATDIQA LKAAFDVNNK DVSVMMSEMD VNAIAGTLKL YFRELPEPLF
TDEFYPNFAE GIALSDPVAK ESCMLNLLLS LPEANLLTFL FLLDHLKRVA EKEAVNKMSL
HNLATVFGPT LLRPSEKESK LPANPSQPIT MTDSWSLEVM SQVQVLLYFL QLEAIPAPDS
KRQSILFSTE V*

Mutated AA sequence

MVDPVGFAEA WKGQFPDSEP PRMELRSVGD IEQELERCKA SIRRLEQEVN QERFRMIYLQ
TLLAKEKKSY DRQRWGFRRA AQAPDGASEP RASASRPQPA PADGADPPPA EEPEARPDGE
GSPGKARPGT ARRPGAAASG ERDDRGPPAS VAALRSNFER IRKGHGQPGA DAEKPFYVNV
EFHHERGLVK VNDKEVSDRI SSLGSQAMQM ERKKSQHGAG SSVGDASRPP YRGRSSESSC
GVDGDYEDAE LNPRFLKDNL IDANGGSRPP WPPLEYQPYQ SIYVGGMMEG EGKGPLLRSQ
STSEQEKRLT WPRRSYSPRS FEDCGGGYTP DCSSNENLTS SEEDFSSGQS SRVSPSPTTY
RMFRDKSRSP SQNSQQSFDS SSPPTPQCHK RHRHCPVVVS EATIVGVRKT GQIWPNDGEG
AFHGDADGSF GTPPGYGCAA DRAEEQRRHQ DGLPYIDDSP SSSPHLSSKG RGSRDALVSG
ALESTKASEL DLEKGLEMRK WVLSGILASE ETYLSHLEAL LLPMKPLKAA ATTSQPVLTS
QQIETIFFKV PELYEIHKEF YDGLFPRVQQ WSHQQRVGDL FQKLASQLGV YRAFVDNYGV
AMEMAEKCCQ ANAQFAEISE NLRARSNKDA KDPTTKNSLE TLLYKPVDRV TRSTLVLHDL
LKHTPASHPD HPLLQDALRI SQNFLSSINE EITPRRQSMT VKKGEHRQLL KDSFMVELVE
GARKLRHVFL FTDLLLCTKL KKQSGGKTQQ YDCKWYIPLT DLSFQMVDEL EAVPNIPLVP
DEELDALKIK ISQIKNDIQR EKRANKGSKA TERLKKKLSE QESLLLLMSP SMAFRVHSRN
GKSYTFLISS DYERAEWREN IREQQKKCFR SFSLTSVELQ MLTNSCVKLQ TVHSIPLTIN
KEDDESPGLY GFLNVIVHSA TGFKQSSNLY CTLEVDSFGY FVNKAKTRVY RDTAEPNWNE
EFEIELEGSQ TLRILCYEKC YNKTKIPKED GESTDRLMGK GQVQLDPQAL QDRDWQRTVI
AMNGIEVKLS VKFNSREFSL KRMPSRKQTG VFGVKIAVVT KRERSKVPYI VRQCVEEIER
RGMEEVGIYR VSGVATDIQA LKAAFDVNNK DVSVMMSEMD VNAIAGTLKL YFRELPEPLF
TDEFYPNFAE GIALSDPVAK ESCMLNLLLS LPEANLLTFL FLLDHLKRVA EKEAVNKMSL
HNLATVFGPT LLRPSEKESK LPANPSQPIT MTDSWSLEVM SQVQVLLYFL QLEAIPAPDS
KRQSILFSTE V*

Position of stopcodon in wt / mu CDS

3816 / 3816

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

1272 / 1272

Position of stopcodon in wt / mu cDNA

4268 / 4268

Position of start ATG in wt / mu cDNA

453 / 453

Last intron/exon boundary

4178

Theoretical NMD boundary in CDS

3675

Length of CDS

3816

Coding sequence (CDS) position

38

cDNA position

490

gDNA position

1295

Chromosomal position

23180998

Speed

0.11 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