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rs80359671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CAAAT) 6 BRCA2 variant considered pathogenic for breast cancer
(CAAAT;CAAAT) 0 common/normal


Make rs80359671(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32331004
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359671
ebirs80359671
HLIrs80359671
Exacrs80359671
Varsomers80359671
Maprs80359671
PheGenIrs80359671
hapmaprs80359671
1000 genomesrs80359671
hgdprs80359671
ensemblrs80359671
gopubmedrs80359671
geneviewrs80359671
scholarrs80359671
googlers80359671
pharmgkbrs80359671
gwascentralrs80359671
openSNPrs80359671
23andMers80359671
23andMe allrs80359671
SNP Nexus

SNPshotrs80359671
SNPdbers80359671
MSV3drs80359671
GWAS Ctlgrs80359671
Max Magnitude6
rs80359671, also known as 995del5, c.767_771delCAAAT and p.Thr256_Asn257?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.rs80359671, aka 999del5, represents a 5bp deletion in the BRCA2 gene on chromosome 13. An alternative rs# for this same deletion is rs80359675. The BRCA2 999del5 deletion has been associated with significantly increased risk for breast cancer as well as some other cancers, at least in certain populations. For more information, see OMIM 600185.0010.
ClinVar
Risk rs80359671(;)
Alt rs80359671(;)
Reference rs80359671(CAAAT;CAAAT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32905145_32905149delTCAAA
CLNSRC Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC RCV000009913.9, RCV000056288.6, RCV000131848.2, RCV000195405.1, RCV000212208.2,