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Variant (rsID / SNP)

rs41293517

BRCA2

rs41293517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,944,566. 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
13:32944566
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
Allele change
Missense_R2787C

Associated conditions / phenotypes

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