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Variant (rsID / SNP)

rs373478248

PALB2

rs373478248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,186. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PALB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:23641186
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
Allele change
Missense_L763F

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast and/or ovarian cancer

Public references

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