rs80357701

minus

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

Make rs80357701(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092199

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357701
dbSNP (classic)	rs80357701
ClinGen	rs80357701
ebi	rs80357701
HLI	rs80357701
Exac	rs80357701
Gnomad	rs80357701
Varsome	rs80357701
LitVar	rs80357701
Map	rs80357701
PheGenI	rs80357701
Biobank	rs80357701
1000 genomes	rs80357701
hgdp	rs80357701
ensembl	rs80357701
geneview	rs80357701
scholar	rs80357701
google	rs80357701
pharmgkb	rs80357701
gwascentral	rs80357701
openSNP	rs80357701
23andMe	rs80357701
SNPshot	rs80357701
SNPdbe	rs80357701
MSV3d	rs80357701
GWAS Ctlg	rs80357701

Merged from

Rs80357777, Rs80357903

Max Magnitude

6

rs80357701, also known as 3448del4, c.3329_3332delAGCA and p.Lys1110_Gln1111?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

This variant is considered a founder mutation in the Columbian Hispanic population.[PMID 30541753 ]

ClinVar
Risk	rs80357701(AAGC;AAGC) Rs80357701(CAAG;CAAG) rs80357701(-;-)
Alt	rs80357701(AAGC;AAGC) Rs80357701(CAAG;CAAG) rs80357701(-;-)
Reference	Rs80357701(AGCA;AGCA)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41244214_41244217delCTTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031104.12, RCV000048151.5, RCV000131812.3, RCV000195363.3, RCV000413338.1,