rs80357848

minus

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

Make rs80357848(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091766

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357848
dbSNP (classic)	rs80357848
ClinGen	rs80357848
ebi	rs80357848
HLI	rs80357848
Exac	rs80357848
Gnomad	rs80357848
Varsome	rs80357848
LitVar	rs80357848
Map	rs80357848
PheGenI	rs80357848
Biobank	rs80357848
1000 genomes	rs80357848
hgdp	rs80357848
ensembl	rs80357848
geneview	rs80357848
scholar	rs80357848
google	rs80357848
pharmgkb	rs80357848
gwascentral	rs80357848
openSNP	rs80357848
23andMe	rs80357848
SNPshot	rs80357848
SNPdbe	rs80357848
MSV3d	rs80357848
GWAS Ctlg	rs80357848

Max Magnitude

6

rs80357848, also known as 3883insA, c.3764_3765insA and p.Asn1255?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357848(A;A)
Alt	rs80357848(A;A)
Reference	Rs80357848(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41243784dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031126.6, RCV000048324.4, RCV000129813.2,