Variant (rsID / SNP)

rs1799954

rs1799954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,592. 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: 13:32914592
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
Allele change: Missense_R2034C

Associated conditions / phenotypes

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

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.