rs80357821

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs80357821(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094404

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357821
dbSNP (classic)	rs80357821
ClinGen	rs80357821
ebi	rs80357821
HLI	rs80357821
Exac	rs80357821
Gnomad	rs80357821
Varsome	rs80357821
LitVar	rs80357821
Map	rs80357821
PheGenI	rs80357821
Biobank	rs80357821
1000 genomes	rs80357821
hgdp	rs80357821
ensembl	rs80357821
geneview	rs80357821
scholar	rs80357821
google	rs80357821
pharmgkb	rs80357821
gwascentral	rs80357821
openSNP	rs80357821
23andMe	rs80357821
SNPshot	rs80357821
SNPdbe	rs80357821
MSV3d	rs80357821
GWAS Ctlg	rs80357821

Max Magnitude

6

rs80357821, also known as 1246delA, c.1127_1127delA and p.Asn376Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357821(-;-)
Alt	rs80357821(-;-)
Reference	Rs80357821(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246421delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047354.2, RCV000111557.3, RCV000129494.3,