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Variant (rsID / SNP)

rs79483201

BRCA2

rs79483201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,906,558. 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
13:32906558
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
Allele change
Missense_C315S

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group D1|Breast and/or ovarian cancer|Familial cancer of breast

Public references

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