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Variant (rsID / SNP)

rs80358516

BRCA2

rs80358516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,911,009. 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
13:32911009
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)
Allele change
Nonsense_Y839X

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome

Public references

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