ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)

gnomAD frequency: 0.00527  dbSNP: rs6413464
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000034480 SCV000167652 benign not provided 2018-12-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26650189, 28944238, 18983535, 25780468, 7970734, 26104880, 22703879, 22995991, 25064638, 15860862, 20981092, 24728327, 9823374, 19141585, 26775776, 7777061, 10498896, 21462282, 12485439, 29552713, 20505745, 18573309)
Ambry Genetics RCV000129667 SCV000184465 benign Hereditary cancer-predisposing syndrome 2014-12-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081463 SCV000262039 benign Familial melanoma 2024-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000411295 SCV000488686 benign Melanoma-pancreatic cancer syndrome 2016-07-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129667 SCV000684527 benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000120541 SCV000805828 benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000120541 SCV000859973 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034480 SCV000888056 benign not provided 2022-08-15 criteria provided, single submitter clinical testing
Mendelics RCV000411295 SCV001137758 benign Melanoma-pancreatic cancer syndrome 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120541 SCV002072287 benign not specified 2017-10-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129667 SCV002534336 benign Hereditary cancer-predisposing syndrome 2020-03-26 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000120541 SCV002760441 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490457 SCV002802992 likely benign Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome 2022-05-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034480 SCV004563022 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000034480 SCV005224102 likely benign not provided criteria provided, single submitter not provided
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034480 SCV000043251 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120541 SCV000084694 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000129667 SCV000787995 benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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