Variant (rsID / SNP)

rs878853616

rs878853616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,906,513. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRCA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:32906513
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.898G>A (p.Val300Ile)
Allele change: Missense_V300L

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Hereditary cancer-predisposing syndrome

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.