rs80357862

minus

Geno	Mag	Summary
(-;CTAA)	6	BRCA1 variant considered pathogenic for breast cancer
(CTAA;CTAA)	0	Normal

Make rs80357862(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067649

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357862
dbSNP (classic)	rs80357862
ClinGen	rs80357862
ebi	rs80357862
HLI	rs80357862
Exac	rs80357862
Gnomad	rs80357862
Varsome	rs80357862
LitVar	rs80357862
Map	rs80357862
PheGenI	rs80357862
Biobank	rs80357862
1000 genomes	rs80357862
hgdp	rs80357862
ensembl	rs80357862
geneview	rs80357862
scholar	rs80357862
google	rs80357862
pharmgkb	rs80357862
gwascentral	rs80357862
openSNP	rs80357862
23andMe	rs80357862
SNPshot	rs80357862
SNPdbe	rs80357862
MSV3d	rs80357862
GWAS Ctlg	rs80357862

Status

Merged into rs80357580

Max Magnitude

6

rs80357862, also known as 5149del4, c.5030_5033delCTAA and p.Thr1677_Asn1678?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357862(CTAA;CTAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast cancer
Reversed	1
HGVS	NC_000017.10:g.41219666_41219669delTTAG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031204.9, RCV000048741.4, RCV000162882.1, RCV000236835.2, RCV000240792.1,