rs28897686

Orientation

minus

Stabilized

minus

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)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091783

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs28897686
dbSNP (classic)	rs28897686
ClinGen	rs28897686
ebi	rs28897686
HLI	rs28897686
Exac	rs28897686
Gnomad	rs28897686
Varsome	rs28897686
LitVar	rs28897686
Map	rs28897686
PheGenI	rs28897686
Biobank	rs28897686
1000 genomes	rs28897686
hgdp	rs28897686
ensembl	rs28897686
geneview	rs28897686
scholar	rs28897686
google	rs28897686
pharmgkb	rs28897686
gwascentral	rs28897686
openSNP	rs28897686
23andMe	rs28897686
SNPshot	rs28897686
SNPdbe	rs28897686
MSV3d	rs28897686
GWAS Ctlg	rs28897686

Max Magnitude

6

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.

OMIM	113705
Desc
Variant	0013
Related	also

?	(A;G) (G;G)

ClinVar
Risk	rs28897686(A;A) rs28897686(T;T)
Alt	rs28897686(A;A) rs28897686(T;T)
Reference	Rs28897686(G;G)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Neoplasm of breast
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 UniProtKB (protein)
CLNACC	RCV000019241.11, RCV000048311.6, RCV000074586.7, RCV000131811.3, RCV000465125.1, RCV000112170.3, RCV000120296.4, RCV000148379.1, RCV000162713.1, RCV000167791.6,