ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2940C>T (p.Ser980=)

dbSNP: rs766049739
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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 RCV000461224 SCV000561106 likely benign Familial cancer of breast 2025-01-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580627 SCV000685993 likely benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580627 SCV001178721 likely benign Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001712437 SCV001942697 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001712437 SCV005623207 uncertain significance not provided 2024-03-21 criteria provided, single submitter clinical testing The PALB2 c.2940C>T (p.Ser980=) synonymous variant has not been reported in individuals with PALB2-related conditions in the published literature. The frequency of this variant in the general population, 0.000004 (1/251476 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect PALB2 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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