ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.443G>T (p.Cys148Phe)

gnomAD frequency: 0.00002  dbSNP: rs200476090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693127 SCV000820983 uncertain significance Multiple endocrine neoplasia type 4 2024-01-21 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 148 of the CDKN1B protein (p.Cys148Phe). This variant is present in population databases (rs200476090, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 571877). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002332438 SCV002632586 likely benign Hereditary cancer-predisposing syndrome 2022-12-02 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153804 SCV003843740 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000693127 SCV005060207 uncertain significance Multiple endocrine neoplasia type 4 2024-03-08 criteria provided, single submitter clinical testing

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