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rs80359521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TTAA) 6 BRCA2 variant considered pathogenic for breast cancer
(AATT;AATT) 0 common in clinvar
(TTAA;TTAA) 0 common in clinvar


Make rs80359521(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339931
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359521
ebirs80359521
HLIrs80359521
Exacrs80359521
Varsomers80359521
Maprs80359521
PheGenIrs80359521
hapmaprs80359521
1000 genomesrs80359521
hgdprs80359521
ensemblrs80359521
gopubmedrs80359521
geneviewrs80359521
scholarrs80359521
googlers80359521
pharmgkbrs80359521
gwascentralrs80359521
openSNPrs80359521
23andMers80359521
23andMe allrs80359521
SNP Nexus

SNPshotrs80359521
SNPdbers80359521
MSV3drs80359521
GWAS Ctlgrs80359521
Max Magnitude6
rs80359521, also known as 5804del4, c.5576_5579delTTAA and p.Ile1859_Lys1860?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

Due to repeating nucleotides in this exact area, this SNP is equivalent to rs770318608 and rs80359520.

ClinVar
Risk rs80359521(;)
Alt rs80359521(;)
Reference rs80359521(AATT;AATT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914068_32914071delTTAA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031556.8, RCV000044684.5, RCV000131118.3, RCV000160296.2,