ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.395del (p.Val132fs)

gnomAD frequency: 0.00001  dbSNP: rs180177085
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700247 SCV000828995 pathogenic Familial cancer of breast 2020-06-07 criteria provided, single submitter clinical testing This variant has been reported in an individual affected with Fanconi anemia (PMID: 17200671). ClinVar contains an entry for this variant (Variation ID: 126748). This variant is present in population databases (rs180177085, ExAC 0.003%). This sequence change creates a premature translational stop signal (p.Val132Alafs*45) 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, 24136930, 25099575). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001021525 SCV001183152 pathogenic Hereditary cancer-predisposing syndrome 2023-03-15 criteria provided, single submitter clinical testing The c.395delT pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 395, causing a translational frameshift with a predicted alternate stop codon (p.V132Afs*45). This mutation has been reported in trans with another PALB2 mutation in an individual with Fanconi anemia (Reid S et al. Nat. Genet. 2007 Feb;39(2):162-4). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV000700247 SCV004188553 pathogenic Familial cancer of breast 2023-09-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776431 SCV005387932 pathogenic Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 2024-09-13 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001030150 SCV001192974 pathogenic Fanconi anemia complementation group N 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, LOVD-team, but with Curator vacancy, Marc Tischkowitz.

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