ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.1194G>A (p.Val398=) (rs61755173)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000588666 SCV000166638 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000212786 SCV000170868 benign not specified 2013-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000127307 SCV000212866 likely benign Hereditary cancer-predisposing syndrome 2014-06-16 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114462 SCV000268040 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Illumina Clinical Services Laboratory,Illumina RCV000327932 SCV000396117 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000127307 SCV000396118 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212786 SCV000601724 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Color RCV000127307 SCV000685859 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588666 SCV000699523 benign not provided 2016-04-11 criteria provided, single submitter clinical testing Variant summary: Variant Summary: The c.1194G>A (p.Val398=) in PALB2 gene is a synonymous change that involves a non-conserved nucleotide with a prediction of being a "disease-causing" by mutation taster. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at an overall allele frequency of 0.073% (88/121172 chrs tested), mainly in individuals of European descent (0.1154%; 77/66698 chrs tested). The observed frequency exceeds the maximum expected allele frequency for a pathogenic PALB2 variant (0.015%), suggesting that it is a common polymorphism. Based on the published reports, the variant of interest was found in affected individuals as well as in unaffected controls without personal or family history of cancer. Lastly, the variant has been reported as Benign by multiple reputable database/clinical laboratories. Taken together, the variant was classified as Benign.
PreventionGenetics,PreventionGenetics RCV000588666 SCV000807069 likely benign not provided 2017-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588666 SCV000889569 likely benign not provided 2018-07-16 criteria provided, single submitter clinical testing
PALB2 database RCV000114462 SCV000148408 benign Familial cancer of breast 2012-10-18 no assertion criteria provided literature only
PALB2 database RCV000114463 SCV000148409 benign Pancreatic cancer 3 2012-10-18 no assertion criteria provided literature only
True Health Diagnostics RCV000127307 SCV000886695 likely benign Hereditary cancer-predisposing syndrome 2018-11-19 no assertion criteria provided clinical testing

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