Variant (rsID / SNP)

rs1430866716

rs1430866716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,784. 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: 13:32914784
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.6301A>C (p.Asn2101His)
Allele change: Missense_S2098T/Missense_S2098A

Associated conditions / phenotypes

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.