Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs397507719

BRCA2

rs397507719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,912,932. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BRCA2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:32912932
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter)
Allele change
Nonsense_Y1480X

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Genetic non-acquired premature ovarian failure|Hereditary breast ovarian cancer syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.