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Variant (rsID / SNP)

rs80358730

BRCA2

rs80358730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,900,409. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRCA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:32900409
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
Allele change
Missense_K169R

Associated conditions / phenotypes

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

Public references

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