ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)

dbSNP: rs62625271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001201230 SCV001372322 likely pathogenic Malignant tumor of breast 2020-06-22 criteria provided, single submitter clinical testing Variant summary: PALB2 c.3251C>A (p.Ser1084X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251478 control chromosomes. To our knowledge, no occurrence of c.3251C>A in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
deCODE genetics, Amgen RCV003485687 SCV004022183 likely pathogenic Familial cancer of breast 2023-07-21 no assertion criteria provided research The variant NM_024675.4:c.3251C>A (chr16:23607963) in PALB2 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has been reported in ClinVar previously as likely pathogenic. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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