ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)

dbSNP: rs587776409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001030190 SCV001389715 pathogenic Familial cancer of breast 2019-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). This variant has been observed in an individual affected with breast cancer (PMID: 25099575). ClinVar contains an entry for this variant (Variation ID: 143980). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser319*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV001030190 SCV004186257 pathogenic Familial cancer of breast 2023-09-07 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.
SNPedia RCV000133494 SCV000188568 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
Leiden Open Variation Database RCV001030190 SCV001193045 pathogenic Familial cancer of breast 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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