Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146218439

PALB2

rs146218439 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,001. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PALB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:23641001
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
Allele change
Missense_R825T

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Endometrial carcinoma

Public references

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