Variant (rsID / SNP)

rs80359130

rs80359130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,950,906. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRCA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:32950906
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu)
Allele change: Missense_A2911E

Associated conditions / phenotypes

Fanconi anemia complementation group D1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.