ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.518A>G (p.Asn173Ser)

gnomAD frequency: 0.00042  dbSNP: rs141509450
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473180 SCV000554676 likely benign Multiple endocrine neoplasia type 4 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568592 SCV000673208 likely benign Hereditary cancer-predisposing syndrome 2023-05-15 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.
Sema4, Sema4 RCV000568592 SCV002527682 likely benign Hereditary cancer-predisposing syndrome 2021-03-15 criteria provided, single submitter curation
GeneDx RCV002260642 SCV002540536 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in an individual with a small bowel neuroendocrine tumor (PMID: 26603463); This variant is associated with the following publications: (PMID: 26603463)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002260642 SCV004220764 benign not provided 2022-12-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960046 SCV004775725 likely benign CDKN1B-related disorder 2022-05-31 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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