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rs41293497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 considered a causal BRCA2 breast cancer mutation
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer


Make rs41293497(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340037
GeneBRCA2
is asnp
is mentioned by
dbSNPrs41293497
ebirs41293497
HLIrs41293497
Exacrs41293497
Varsomers41293497
Maprs41293497
PheGenIrs41293497
hapmaprs41293497
1000 genomesrs41293497
hgdprs41293497
ensemblrs41293497
gopubmedrs41293497
geneviewrs41293497
scholarrs41293497
googlers41293497
pharmgkbrs41293497
gwascentralrs41293497
openSNPrs41293497
23andMers41293497
23andMe allrs41293497
SNP Nexus

SNPshotrs41293497
SNPdbers41293497
MSV3drs41293497
GWAS Ctlgrs41293497
Max Magnitude6

rs41293497 is a BRCA2 gene variant, with at least two variant alleles: C>G and C>A. [The C>T variant is also possible, however it is a synonymous change that is considered benign.] Alternative names for the pathogenic alleles include Tyr1894Ter, Y1894X, 5910C>G, and 5910C>A.

Both the C>G and C>A variants are listed as causal breast cancer mutations in UMD, and as pathogenic by most submitters to ClinVar.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

In addition to presenting rs41293497, 23andMe has an additional C>G SNP at this position known as i5009383 on some of its microarrays.


ClinVar
Risk rs41293497(A,G,T;A,G,T)
Alt rs41293497(A,G,T;A,G,T)
Reference rs41293497(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Ovarian cancer not provided
Reversed 0
HGVS NC_000013.10:g.32914174C>A; NC_000013.10:g.32914174C>G; NC_000013.10:g.32914174C>T
CLNSRC Ambry Genetics ClinVar University of Washington
CLNACC RCV000113461.1, RCV000131119.2, RCV000031570.7, RCV000044719.6, RCV000131121.2, RCV000148424.1, RCV000160095.3, RCV000122918.2, RCV000163780.1,