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rs41293455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;G) 2 BRCA1 variant that is probably benign
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 2 predisposition to breast cancer?
ReferenceGRCh38 38.1/141
Chromosome17
Position43082434
GeneBRCA1
is asnp
is mentioned by
dbSNPrs41293455
dbSNP (old)rs41293455
ClinGenrs41293455
ebirs41293455
HLIrs41293455
Exacrs41293455
Gnomadrs41293455
Varsomers41293455
Maprs41293455
PheGenIrs41293455
Biobankrs41293455
1000 genomesrs41293455
hgdprs41293455
ensemblrs41293455
gopubmedrs41293455
geneviewrs41293455
scholarrs41293455
googlers41293455
pharmgkbrs41293455
gwascentralrs41293455
openSNPrs41293455
23andMers41293455
23andMe allrs41293455
SNP Nexus

SNPshotrs41293455
SNPdbers41293455
MSV3drs41293455
GWAS Ctlgrs41293455
Max Magnitude6
rs41293455 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1443. The more common rs41293455(C) allele encodes Arg, while the rare rs41293455(T) allele encodes a stop codon (aka c.4327C>T, p.Arg1443Ter). Another variant, rs41293455(G), encodes a Gly (aka c.4327C>G or p.Arg1443Gly); this variant appears to be benign by consensus in ClinVar.

A well known study published in 1994 looked at 50 family pedigrees with breast cancer and ovarian cancer susceptibility, discovering what they believed were eight putative disease-causing mutations (four frameshifts, two nonsense mutations) and an additional two missense mutations. rs41293455 was one of these variants. [PMID 7894491]

OMIM113705
Desc
Variant0016
Relatedalso
OMIM113705
Desc
Variant0017
Relatedalso


ClinVar
Risk rs41293455(G;G) Rs41293455(T;T)
Alt rs41293455(G;G) Rs41293455(T;T)
Reference Rs41293455(C;C)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not provided not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not provided not specified
Reversed 1
HGVS NC_000017.10:g.41234451G>A; NC_000017.10:g.41234451G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019244.15, RCV000048523.7, RCV000131880.3, RCV000159989.2, RCV000235131.2, RCV000239083.1, RCV000019245.8, RCV000048522.4, RCV000129043.3, RCV000427206.1,