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Variant (rsID / SNP)

rs80358980

BRCA2

rs80358980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,930,663. 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
13:32930663
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
Allele change
Missense_L2512F

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|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.