rs28897696

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063903

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs28897696
dbSNP (classic)	rs28897696
ClinGen	rs28897696
ebi	rs28897696
HLI	rs28897696
Exac	rs28897696
Gnomad	rs28897696
Varsome	rs28897696
LitVar	rs28897696
Map	rs28897696
PheGenI	rs28897696
Biobank	rs28897696
1000 genomes	rs28897696
hgdp	rs28897696
ensembl	rs28897696
geneview	rs28897696
scholar	rs28897696
google	rs28897696
pharmgkb	rs28897696
gwascentral	rs28897696
openSNP	rs28897696
23andMe	rs28897696
SNPshot	rs28897696
SNPdbe	rs28897696
MSV3d	rs28897696
GWAS Ctlg	rs28897696

Max Magnitude

7

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 17924331]

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

This mutation is considered a founder mutation in the Columbian Hispanic population.[PMID 30541753]

?	(A;C) (C;C)

ClinVar
Risk	Rs28897696(A;A) rs28897696(T;T)
Alt	Rs28897696(A;A) rs28897696(T;T)
Reference	Rs28897696(C;C)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified not provided Neoplasm of breast Familial cancer of breast
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 Neoplasm of breast Familial cancer of breast
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 UniProtKB (protein)
CLNACC	RCV000031221.5, RCV000048803.6, RCV000131166.3, RCV000148393.1, RCV000212194.2, RCV000048802.6, RCV000077599.6, RCV000131831.3, RCV000167826.4, RCV000413608.1, RCV000457403.1,