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rs41293463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome17
Position43051071
GeneBRCA1
is asnp
is mentioned by
dbSNPrs41293463
ebirs41293463
HLIrs41293463
Exacrs41293463
Varsomers41293463
Maprs41293463
PheGenIrs41293463
hapmaprs41293463
1000 genomesrs41293463
hgdprs41293463
ensemblrs41293463
gopubmedrs41293463
geneviewrs41293463
scholarrs41293463
googlers41293463
pharmgkbrs41293463
gwascentralrs41293463
openSNPrs41293463
23andMers41293463
23andMe allrs41293463
SNP Nexus

SNPshotrs41293463
SNPdbers41293463
MSV3drs41293463
GWAS Ctlgrs41293463
Max Magnitude6

rs41293463, also known as c.5324T>G (p.Met1775Arg) as well as c.5324T>A (p.Met1775Lys), is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1775.

A study found that the rs41293463(G) allele has impaired transcriptional ability, and this allele was found in some patients with breast cancer. It seems likely that primarily (G;G) homozygotes would be at increased risk for breast cancer but this has not been demonstrated. [PMID 8942979OA-icon.png]

ClinVar has designated both minor alleles as pathogenic for breast cancer.

OMIM113705
Desc
Variant0035
Relatedalso


ClinVar
Risk rs41293463(A,G;A,G)
Alt rs41293463(A,G;A,G)
Reference rs41293463(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41203088A>C; NC_000017.10:g.41203088A>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation OMIM Allelic Variant
CLNACC RCV000019264.9, RCV000048931.5, RCV000131375.2, RCV000167787.4, RCV000019265.7, RCV000048930.2,