Variant (rsID / SNP)

rs387907575

rs387907575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,453. 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: 13:32914453
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)
Allele change: Missense_Q1987H

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|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.