ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.-2G>A

gnomAD frequency: 0.00097  dbSNP: rs191394143
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129674 SCV000184473 benign Hereditary cancer-predisposing syndrome 2017-10-10 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000212397 SCV000210939 benign not specified 2014-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000410804 SCV000488952 benign Melanoma-pancreatic cancer syndrome 2016-07-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129674 SCV000684502 benign Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590031 SCV000695339 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000212397 SCV000805815 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212397 SCV000888052 benign not specified 2022-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512796 SCV001720260 benign Familial melanoma 2023-12-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129674 SCV002534328 benign Hereditary cancer-predisposing syndrome 2020-12-03 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002505105 SCV002808354 likely benign Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome 2021-11-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410804 SCV004018556 likely benign Melanoma-pancreatic cancer syndrome 2023-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000212397 SCV004243351 benign not specified 2024-02-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000590031 SCV005224109 likely benign not provided criteria provided, single submitter not provided

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