ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2391del (p.Gln797fs)

dbSNP: rs1555460360
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210140 SCV000266104 pathogenic Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre RCV000114525 SCV000267968 likely pathogenic Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Ambry Genetics RCV000210140 SCV002737112 pathogenic Hereditary cancer-predisposing syndrome 2020-01-24 criteria provided, single submitter clinical testing The c.2391delA pathogenic mutation, located in coding exon 5 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 2391, causing a translational frameshift with a predicted alternate stop codon (p.Q797Hfs*54). This mutation (designated as c.2390del) was detected in 1/347 Australian triple-negative breast cancer patients (Wong-Brown MW et al. Int. J. Cancer, 2014 Jan;134:301-5). It was also reported in a patient with breast cancer and a family history of melanoma, non-Hodgkin's lymphoma, bladder cancer, and breast cancer (Thompson ER et al. Breast Cancer Res., 2015 Aug;17:111). 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. RCV000114525 SCV004187422 pathogenic Familial cancer of breast 2023-09-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Leiden Open Variation Database RCV000114525 SCV001193222 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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