ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)

gnomAD frequency: 0.00001  dbSNP: rs148026749
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212809 SCV000211516 uncertain significance not provided 2024-04-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast and/or ovarian cancer but also in unaffected controls (PMID: 25225577, 28779002, 30309218, 33471991); This variant is associated with the following publications: (PMID: 24293293, 22895193, 25225577, 26976419, 30309218, 28779002, 31822803, 36922933, 24485656, 33471991)
Ambry Genetics RCV000160841 SCV000217824 likely benign Hereditary cancer-predisposing syndrome 2017-11-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000204167 SCV000260019 likely benign Familial cancer of breast 2024-12-30 criteria provided, single submitter clinical testing
Counsyl RCV000204167 SCV000487942 uncertain significance Familial cancer of breast 2015-12-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160841 SCV000903039 likely benign Hereditary cancer-predisposing syndrome 2017-01-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000204167 SCV004019122 uncertain significance Familial cancer of breast 2023-03-30 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212809 SCV004222295 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.000016 (4/251432 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in affected individuals with breast cancer as well as in control individuals in a large scale breast cancer association study (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/PALB2)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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