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Variant (rsID / SNP)

rs760815829

BRCA2

rs760815829 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,906,804. 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
13:32906804
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
Allele change
Nonsense_Q397X

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2|Familial cancer of breast|Breast carcinoma

Public references

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