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Variant (rsID / SNP)

rs80359144

BRCA2

rs80359144 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,953,632. 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
13:32953632
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)
Allele change
Nonsense_S2978X

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|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.