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Variant (rsID / SNP)

rs80358545

BRCA2

rs80358545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,911,479. Clinical significance in the table: Benign.

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Reference-table entries

BRCA2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
13:32911479
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
Allele change
Missense_L996R

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group D1

Public references

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