rs80357853

minus

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

Make rs80357853(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093569

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357853
dbSNP (classic)	rs80357853
ClinGen	rs80357853
ebi	rs80357853
HLI	rs80357853
Exac	rs80357853
Gnomad	rs80357853
Varsome	rs80357853
LitVar	rs80357853
Map	rs80357853
PheGenI	rs80357853
Biobank	rs80357853
1000 genomes	rs80357853
hgdp	rs80357853
ensembl	rs80357853
geneview	rs80357853
scholar	rs80357853
google	rs80357853
pharmgkb	rs80357853
gwascentral	rs80357853
openSNP	rs80357853
23andMe	rs80357853
SNPshot	rs80357853
SNPdbe	rs80357853
MSV3d	rs80357853
GWAS Ctlg	rs80357853

Max Magnitude

6

rs80357853, also known as 2080insA, c.1961_1962insA and p.Lys654?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357853(A;A)
Alt	rs80357853(A;A)
Reference	Rs80357853(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41245587dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031018.7, RCV000047661.6, RCV000130225.2, RCV000203641.2,