rs80357924

minus

Geno	Mag	Summary
(-;AACT)	6	BRCA1 variant considered pathogenic for breast cancer
(AACT;AACT)	0	common/normal
(CTAA;CTAA)	0	common in clinvar

Make rs80357924(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43067651

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357924
dbSNP (classic)	rs80357924
ClinGen	rs80357924
ebi	rs80357924
HLI	rs80357924
Exac	rs80357924
Gnomad	rs80357924
Varsome	rs80357924
LitVar	rs80357924
Map	rs80357924
PheGenI	rs80357924
Biobank	rs80357924
1000 genomes	rs80357924
hgdp	rs80357924
ensembl	rs80357924
geneview	rs80357924
scholar	rs80357924
google	rs80357924
pharmgkb	rs80357924
gwascentral	rs80357924
openSNP	rs80357924
23andMe	rs80357924
SNPshot	rs80357924
SNPdbe	rs80357924
MSV3d	rs80357924
GWAS Ctlg	rs80357924

Status

Merged into rs80357580

Max Magnitude

6

rs80357924, also known as 5147del4, c.5028_5031delAACT and p.Leu1676_Thr1677?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357924(CTAA;CTAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast cancer
Reversed	1
HGVS	NC_000017.10:g.41219666_41219669delTTAG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031204.9, RCV000048741.4, RCV000162882.1, RCV000236835.2, RCV000240792.1,