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rs28897686

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 1 Benign BRCA1 variant
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 pathogenic mutation associated with breast cancer
Make rs28897686(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091783
GeneBRCA1
is asnp
is mentioned by
dbSNPrs28897686
ebirs28897686
HLIrs28897686
Exacrs28897686
Varsomers28897686
Maprs28897686
PheGenIrs28897686
hapmaprs28897686
1000 genomesrs28897686
hgdprs28897686
ensemblrs28897686
gopubmedrs28897686
geneviewrs28897686
scholarrs28897686
googlers28897686
pharmgkbrs28897686
gwascentralrs28897686
openSNPrs28897686
23andMers28897686
23andMe allrs28897686
SNP Nexus

SNPshotrs28897686
SNPdbers28897686
MSV3drs28897686
GWAS Ctlgrs28897686
Max Magnitude6

rs28897686, also known as E1250X, c.3748G>T,3867G>T and p.Glu1250Ter, is a variant in the BRCA1 gene. The rare G>T variant allele is considered pathogenic by multiple submitters to ClinVar for breast cancer. Note that a G>A allele also is known, however, the clinical significance is unknown.

See also OMIM 113705.0013

Note that the 23andMe representation of this SNP is unclear; on the forward strand (in contrast to dbSNP and SNPedia), the alleles being stated as being tested for rs28897686 and i5010145 are C and T, which would correspond to the G>A allele of unknown clinical significance. The G>T allele that is clinically significant does not appear to be tested on a 23andMe microarray.

OMIM113705
Desc
Variant0013
Relatedalso
? (A;G) (G;G)


ClinVar
Risk rs28897686(A,T;A,T)
Alt rs28897686(A,T;A,T)
Reference rs28897686(G;G)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome not specified Breast cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome not specified Breast cancer
Reversed 1
HGVS NC_000017.10:g.41243800C>A; NC_000017.10:g.41243800C>T
CLNSRC OMIM Allelic Variant Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000019241.8, RCV000048311.5, RCV000074586.6, RCV000131811.2, RCV000112170.3, RCV000120296.3, RCV000148379.1, RCV000162713.1, RCV000167791.4,