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Variant (rsID / SNP)

rs80358971

BRCA2

rs80358971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,930,600. 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
13:32930600
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)
Allele change
Nonsense_Q2491X

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast

Public references

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