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Variant (rsID / SNP)

rs55816687

BRCA2

rs55816687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,910,630. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BRCA2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
13:32910630
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
Allele change
Missense_Q713L

Associated conditions / phenotypes

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