rs80357952

minus

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

Make rs80357952(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093705

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357952
dbSNP (classic)	rs80357952
ClinGen	rs80357952
ebi	rs80357952
HLI	rs80357952
Exac	rs80357952
Gnomad	rs80357952
Varsome	rs80357952
LitVar	rs80357952
Map	rs80357952
PheGenI	rs80357952
Biobank	rs80357952
1000 genomes	rs80357952
hgdp	rs80357952
ensembl	rs80357952
geneview	rs80357952
scholar	rs80357952
google	rs80357952
pharmgkb	rs80357952
gwascentral	rs80357952
openSNP	rs80357952
23andMe	rs80357952
SNPshot	rs80357952
SNPdbe	rs80357952
MSV3d	rs80357952
GWAS Ctlg	rs80357952

Status

Merged into rs80357585

Max Magnitude

6

rs80357952, also known as 1942del4, c.1823_1826delAGAA and p.Lys608_Asn609?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357952(AGAA;AGAA)
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.41245722_41245725delTTCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047598.2, RCV000111693.5, RCV000131901.3,