Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs80358530

BRCA2

rs80358530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,911,263. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BRCA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:32911263
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
Allele change
Missense_N924I

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|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.