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rs45553935

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2 increased risk for breast cancer
(C;T) 2 increased risk for breast cancer
(T;T) 0 Normal
ReferenceGRCh38 38.1/141
Chromosome17
Position43057122
GeneBRCA1
is asnp
is mentioned by
dbSNPrs45553935
ebirs45553935
HLIrs45553935
Exacrs45553935
Varsomers45553935
Maprs45553935
PheGenIrs45553935
hapmaprs45553935
1000 genomesrs45553935
hgdprs45553935
ensemblrs45553935
gopubmedrs45553935
geneviewrs45553935
scholarrs45553935
googlers45553935
pharmgkbrs45553935
gwascentralrs45553935
openSNPrs45553935
23andMers45553935
23andMe allrs45553935
SNP Nexus

SNPshotrs45553935
SNPdbers45553935
MSV3drs45553935
GWAS Ctlgrs45553935
Max Magnitude2
ClinVar
Risk rs45553935(C,G;C,G)
Alt rs45553935(C,G;C,G)
Reference rs45553935(T;T)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41209139A>C; NC_000017.10:g.41209139A>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000048858.2, RCV000112563.1, RCV000031229.5, RCV000048857.5, RCV000131291.2, RCV000195366.3,



rs45553935 is a tri-allelic SNP in the BRCA1 gene. The reference nucleotide at this position (on the forward strand as listed in dbSNP) is (T); the alternative alleles are (C) and (G). rs45553935(C) corresponds to a BRCA1 change known as Val1736Ala or V1736A, whereas rs45553935(G) corresponds to Val1736Gly or V1736G.

This BRCA1 SNP is listed at pathogenic for breast cancer in ClinVar, although the evidence is somewhat indirect. For V1736A, there is now a publication studying the change in depth and concluding it does predispose carriers to breast cancer.[PMID 23269703OA-icon.png],[PMID 23580280OA-icon.png]

The evidence indicating V1736G is pathogenic appears to primarily be computational (i.e. predictive, such as [1]) and should be treated with caution. There are breast cancer patients harboring the BRCA1 V1736G mutation, but to our knowledge, to date there is no pedigree or other direct evidence confirming pathogenicity.