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rs28897672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 4 BRCA1 breast cancer mutation
(G;T) 4 considered a pathogenic breast cancer variant
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome17
Position43106487
GeneBRCA1
is asnp
is mentioned by
dbSNPrs28897672
ebirs28897672
HLIrs28897672
Exacrs28897672
Varsomers28897672
Maprs28897672
PheGenIrs28897672
hapmaprs28897672
1000 genomesrs28897672
hgdprs28897672
ensemblrs28897672
gopubmedrs28897672
geneviewrs28897672
scholarrs28897672
googlers28897672
pharmgkbrs28897672
gwascentralrs28897672
openSNPrs28897672
23andMers28897672
23andMe allrs28897672
SNP Nexus

SNPshotrs28897672
SNPdbers28897672
MSV3drs28897672
GWAS Ctlgrs28897672
Max Magnitude4
rs28897672 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 61. The more common rs28897672(T) allele encodes Cys, while the rare rs28897672(G) allele encodes Gly; this variation is also known as Cys61Gly or C61G.

A study of 66 Polish families affected with breast cancer or ovarian cancer, often diagnosed at a relatively young age (< 50 years old), screened for BRCA1 mutations by sequencing. The C61G mutation accounted for 20% of the identified mutations in this group of families.[PMID 10788334OA-icon.png]

OMIM113705
Desc
Variant0002
Relatedalso


ClinVar
Risk rs28897672(A,C,G;A,C,G)
Alt rs28897672(A,C,G;A,C,G)
Reference rs28897672(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41258504A>C; NC_000017.10:g.41258504A>G; NC_000017.10:g.41258504A>T
CLNSRC Inc. Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation OMIM Allelic Variant
CLNACC RCV000019229.10, RCV000047597.8, RCV000131902.3, RCV000159935.2, RCV000239114.1, RCV000047596.2, RCV000111959.1, RCV000047595.2,