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Variant (rsID / SNP)

rs80358599

BRCA2

rs80358599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,912,001. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRCA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:32912001
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
Allele change
Missense_A1170V

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|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.