rs80357823

minus

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

Make rs80357823(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43051075

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357823
dbSNP (classic)	rs80357823
ClinGen	rs80357823
ebi	rs80357823
HLI	rs80357823
Exac	rs80357823
Gnomad	rs80357823
Varsome	rs80357823
LitVar	rs80357823
Map	rs80357823
PheGenI	rs80357823
Biobank	rs80357823
1000 genomes	rs80357823
hgdp	rs80357823
ensembl	rs80357823
geneview	rs80357823
scholar	rs80357823
google	rs80357823
pharmgkb	rs80357823
gwascentral	rs80357823
openSNP	rs80357823
23andMe	rs80357823
SNPshot	rs80357823
SNPdbe	rs80357823
MSV3d	rs80357823
GWAS Ctlg	rs80357823

Max Magnitude

6

rs80357823, also known as 5438insC, c.5319_5320insC and p.Thr1773_Asn1774?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357823(C;C)
Alt	rs80357823(C;C)
Reference	Rs80357823(-;-)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41203093dupG
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000048927.3, RCV000074358.10, RCV000131363.3, RCV000478417.1,