Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs80358824

BRCA2

rs80358824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,401. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BRCA2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:32914401
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
Allele change
Nonsense_S1970X

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer|Malignant tumor of breast

Public references

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