Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs75023630

PALB2

rs75023630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,646,375. 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
16:23646375
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
Allele change
Missense_D498Y

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N|Hereditary breast ovarian cancer syndrome|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.