Variant (rsID / SNP)

rs780324598

rs780324598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,907,364. Clinical significance in the table: Likely benign.

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Reference-table entries

BRCA2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:32907364
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.1749G>A (p.Leu583=)
Allele change: Synonymous_L583L

Associated conditions / phenotypes

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

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.