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rs28897696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 7 carrier of two copies of BRCA1 variant; likely to be at high risk for breast/ovarian cancer
(A;C) 6 BRCA1 variant reported to be pathogenic for breast cancer
(C;C) 0 normal
ReferenceGRCh38 38.1/141
Chromosome17
Position43063903
GeneBRCA1
is asnp
is mentioned by
dbSNPrs28897696
ebirs28897696
HLIrs28897696
Exacrs28897696
Varsomers28897696
Maprs28897696
PheGenIrs28897696
hapmaprs28897696
1000 genomesrs28897696
hgdprs28897696
ensemblrs28897696
gopubmedrs28897696
geneviewrs28897696
scholarrs28897696
googlers28897696
pharmgkbrs28897696
gwascentralrs28897696
openSNPrs28897696
23andMers28897696
23andMe allrs28897696
SNP Nexus

SNPshotrs28897696
SNPdbers28897696
MSV3drs28897696
GWAS Ctlgrs28897696
Max Magnitude7
rs28897696, also known as A1708E, c.5123C>A, 5242C>A and p.Ala1708Glu, is a SNP in the BRCA1 gene. The far more common (C) allele encodes the amino acid alanine (A), while the very rare (A) allele encodes glutamic acid (E).

An analysis of sequence variants of unknown clinical significance in the BRCA1 and BRCA2 genes concluded that this SNP was among the top 10 (over both genes) likely to lead to breast cancer, with a calculated odds of over 1,000:1 against this just being a spurious association. Although the clinical importance has not been proven, this may still be of use for genetic counseling.[PMID 17924331OA-icon.png]

More recently, multiple genetic testing labs have reported the rare allele of this SNP to be pathogenic for breast cancer in ClinVar.

? (A;C) (C;C)


ClinVar
Risk rs28897696(A,T;A,T)
Alt rs28897696(A,T;A,T)
Reference rs28897696(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified not provided
Reversed 1
HGVS NC_000017.10:g.41215920G>A; NC_000017.10:g.41215920G>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000031221.4, RCV000048803.5, RCV000131166.2, RCV000148393.1, RCV000212194.2, RCV000048802.5, RCV000077599.6, RCV000131831.2, RCV000167826.3,