Variant (rsID / SNP)

rs80358443

rs80358443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,907,183. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BRCA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:32907183
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.1568A>T (p.His523Leu)
Allele change: Missense_H523L

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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