ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.476-5C>T

gnomAD frequency: 0.00031  dbSNP: rs370509436
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298804 SCV000377023 benign Multiple endocrine neoplasia type 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV001023008 SCV001184817 likely benign Hereditary cancer-predisposing syndrome 2020-03-24 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 RCV000298804 SCV001664676 likely benign Multiple endocrine neoplasia type 4 2024-01-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001023008 SCV002527677 likely benign Hereditary cancer-predisposing syndrome 2022-01-12 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003910133 SCV004725297 likely benign CDKN1B-related disorder 2023-05-22 no assertion criteria provided 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).

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