ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)

dbSNP: rs1966798806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258100 SCV001434945 likely pathogenic Pancreatic cancer, susceptibility to, 3; Breast cancer, susceptibility to 2018-10-12 criteria provided, single submitter clinical testing This c.2974_2795del (p.Met992Aspfs*18) frameshift variant in the PALB2 gene is predicted to introduce a premature translation termination codon. This variant has never been reported before. Mono-allelic loss of function variants in the PALB2 gene is known to be associated with susceptibility to breast cancer and pancreatic cancer. Bi-allelic loss of function variants in this gene are associated with Fanconi anemia, complementation group N (OMIM 610832). Therefore, this c.2974_2795del (p.Met992Aspfs*18) variant in the PALB2 gene is classified as likely pathogenic.
Ambry Genetics RCV002436980 SCV002751350 pathogenic Hereditary cancer-predisposing syndrome 2016-03-01 criteria provided, single submitter clinical testing The c.2974_2975delAT pathogenic mutation, located in coding exon 9 of the PALB2 gene, results from a deletion of two nucleotides between nucleotide positions 2974 and 2975, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003449818 SCV004189494 pathogenic Familial cancer of breast 2023-09-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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