rs80357580

minus

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

Make rs80357580(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43067652

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357580
dbSNP (classic)	rs80357580
ClinGen	rs80357580
ebi	rs80357580
HLI	rs80357580
Exac	rs80357580
Gnomad	rs80357580
Varsome	rs80357580
LitVar	rs80357580
Map	rs80357580
PheGenI	rs80357580
Biobank	rs80357580
1000 genomes	rs80357580
hgdp	rs80357580
ensembl	rs80357580
geneview	rs80357580
scholar	rs80357580
google	rs80357580
pharmgkb	rs80357580
gwascentral	rs80357580
openSNP	rs80357580
23andMe	rs80357580
SNPshot	rs80357580
SNPdbe	rs80357580
MSV3d	rs80357580
GWAS Ctlg	rs80357580

Merged from

Rs80357862, Rs80357924

Max Magnitude

6

rs80357580, also known as 5146del4, c.5027_5030delTAAC and p.Leu1676_Thr1677?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357580(CTAA;CTAA) rs80357580(AACT;AACT) rs80357580(-;-)
Alt	Rs80357580(CTAA;CTAA) rs80357580(AACT;AACT) rs80357580(-;-)
Reference	Rs80357580(TAAC;TAAC)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41219666_41219669delTTAG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031204.11, RCV000048741.5, RCV000162882.1, RCV000236835.2, RCV000240792.1,