rs80357917

minus

Geno	Mag	Summary
(-;AATC)	6	BRCA1 variant considered pathogenic for breast cancer
(AATC;AATC)	0	common/normal
(TCAA;TCAA)	0	common in clinvar

Make rs80357917(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092803

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357917
dbSNP (classic)	rs80357917
ClinGen	rs80357917
ebi	rs80357917
HLI	rs80357917
Exac	rs80357917
Gnomad	rs80357917
Varsome	rs80357917
LitVar	rs80357917
Map	rs80357917
PheGenI	rs80357917
Biobank	rs80357917
1000 genomes	rs80357917
hgdp	rs80357917
ensembl	rs80357917
geneview	rs80357917
scholar	rs80357917
google	rs80357917
pharmgkb	rs80357917
gwascentral	rs80357917
openSNP	rs80357917
23andMe	rs80357917
SNPshot	rs80357917
SNPdbe	rs80357917
MSV3d	rs80357917
GWAS Ctlg	rs80357917

Status

Merged into rs80357605

Max Magnitude

6

rs80357917, also known as 2844del4, c.2725_2728delAATC and p.Asn909_Gln910?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357917(TCAA;TCAA)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244818_41244821delTTGA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047948.4, RCV000083188.6, RCV000162859.1,