Variant (rsID / SNP)

rs543748012

rs543748012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,911,743. 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: 13:32911743
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)
Allele change: Missense_S1084N

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing 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.