rs80357783

minus

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

Reference

GRCh38 38.1/141

Chromosome

17

Position

43124030

Gene	BRCA1, NBR2

is a	snp
is	mentioned by
dbSNP	rs80357783
dbSNP (classic)	rs80357783
ClinGen	rs80357783
ebi	rs80357783
HLI	rs80357783
Exac	rs80357783
Gnomad	rs80357783
Varsome	rs80357783
LitVar	rs80357783
Map	rs80357783
PheGenI	rs80357783
Biobank	rs80357783
1000 genomes	rs80357783
hgdp	rs80357783
ensembl	rs80357783
geneview	rs80357783
scholar	rs80357783
google	rs80357783
pharmgkb	rs80357783
gwascentral	rs80357783
openSNP	rs80357783
23andMe	rs80357783
SNPshot	rs80357783
SNPdbe	rs80357783
MSV3d	rs80357783
GWAS Ctlg	rs80357783

Merged from

Rs77944974, Rs80357713

Max Magnitude

6

rs80357783, also known as c.68_69delAG (p.Glu23Valfs), is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. See discussion at rs796856605, since this is another name for this (185delAG) mutation.

ClinVar
Risk	rs80357783(A;A) rs80357783(C;C) Rs80357783(AG;AG)
Alt	rs80357783(A;A) rs80357783(C;C) Rs80357783(AG;AG)
Reference	Rs80357783(-;-)
Significance	Other
Disease	Breast-ovarian cancer Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Variation	info
Gene	NBR2 BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41276047_41276048delCT; NC_000017.10:g.41276048dupT
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019230.18, RCV000019231.3, RCV000034761.9, RCV000056295.6, RCV000131394.4, RCV000213650.3, RCV000031272.7, RCV000049087.4, RCV000163427.2, RCV000240681.1, RCV000478017.1,