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Variant (rsID / SNP)

rs80358979

BRCA2

rs80358979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,930,658. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BRCA2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:32930658
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
Allele change
Missense_L2510P

Associated conditions / phenotypes

Fanconi anemia complementation group D1|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.