ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.234G>A (p.Glu78=)

gnomAD frequency: 0.00007  dbSNP: rs751794433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000861977 SCV000377011 benign Multiple endocrine neoplasia type 4 2018-01-12 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.
Invitae RCV000861977 SCV001002402 likely benign Multiple endocrine neoplasia type 4 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446562 SCV002732670 likely benign Hereditary cancer-predisposing syndrome 2019-06-20 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465615 SCV002760596 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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