ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)

dbSNP: rs1248579792
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772890 SCV000906272 pathogenic Hereditary cancer-predisposing syndrome 2020-10-20 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 2 of the PALB2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with breast and bladder cancer in the literature (PMID: 24136930). This variant has been identified in 1/251470 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of PALB2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Invitae RCV001030115 SCV002229392 pathogenic Familial cancer of breast 2022-05-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys25*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast and bladder cancer (PMID: 24136930). ClinVar contains an entry for this variant (Variation ID: 628424). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001030115 SCV004189345 pathogenic Familial cancer of breast 2023-09-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Leiden Open Variation Database RCV001030115 SCV001192917 pathogenic Familial cancer of breast 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.
BRCAlab, Lund University RCV003155956 SCV002588981 pathogenic Hereditary breast ovarian cancer syndrome 2022-08-26 no assertion criteria provided clinical testing

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