ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2478C>T (p.Asn826=)

gnomAD frequency: 0.00001  dbSNP: rs786201885
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164395 SCV000215031 likely benign Hereditary cancer-predisposing syndrome 2015-07-23 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.
Invitae RCV000206600 SCV000259345 likely benign Familial cancer of breast 2023-12-13 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre RCV000206600 SCV000268051 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Counsyl RCV000206600 SCV000488050 likely benign Familial cancer of breast 2015-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000435545 SCV000517275 likely benign not specified 2016-11-22 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.
Color Diagnostics, LLC DBA Color Health RCV000164395 SCV000690850 likely benign Hereditary cancer-predisposing syndrome 2017-09-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000435545 SCV000919936 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000206600 SCV004019151 benign Familial cancer of breast 2023-03-30 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV004535097 SCV004715742 likely benign PALB2-related disorder 2024-01-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
True Health Diagnostics RCV000164395 SCV000886697 likely benign Hereditary cancer-predisposing syndrome 2018-11-09 no assertion criteria provided clinical testing

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