Variant (rsID / SNP)

rs397507581

rs397507581 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,893,279. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRCA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:32893279
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.133G>T (p.Glu45Ter)
Allele change: Nonsense_E45X

Associated conditions / phenotypes

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

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.