Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs371067421

BRCA2

rs371067421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,915,033. 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
13:32915033
Cytoband
13q13.1
HGVS
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
Allele change
Nonsense_G2181X

Associated conditions / phenotypes

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

Public references

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