ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.261G>A (p.Arg87=) (rs546300971)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167250 SCV000218090 likely benign Hereditary cancer-predisposing syndrome 2014-12-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000199708 SCV000254239 uncertain significance Hereditary melanoma 2015-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000236680 SCV000293289 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing This variant is denoted CDKN2A c.304G>A at the cDNA level, p.Gly102Arg (G102R) at the protein level, and results in the change of a Glycine to an Arginine (GGA>AGA) in exon 2 of the p14-ARF protein. Of note, this variant also results in a change to the p16 protein; however, that nucleotide substitution is silent (p.Arg87Arg) at the protein level. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant.. CDKN2A Gly102Arg was not observed at a significant allele frequency in large population cohorts (Lek 2016). CDKN2A Gly102Arg is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether CDKN2A Gly102Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color Health, Inc RCV000167250 SCV000903254 likely benign Hereditary cancer-predisposing syndrome 2020-03-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780108 SCV000917151 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing

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