Variant (rsID / SNP)

rs730881543

rs730881543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,992. 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: 13:32914992
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.6500T>C (p.Leu2167Ser)
Allele change: Nonsense_L2167X

Associated conditions / phenotypes

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.