ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) (rs1881420)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000119978 SCV000310078 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000605771 SCV000429916 benign Neuroblastoma 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000119978 SCV000518942 benign not specified 2016-04-05 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000119978 SCV000538271 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Ambry Genetics RCV000569094 SCV000664947 benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Integrated Genetics/Laboratory Corporation of America RCV000586542 SCV000698297 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The ALK c.4472A>G variant affects a conserved nucleotide, resulting in amino acid change from Lys to Arg. 5/5 in-silico tools predict benign outcome for this variant. This variant was found in 40280/121392 control chromosomes (8650 homozygotes) at a frequency of 0.3318176, which is about 796362 times the maximal expected frequency of a pathogenic ALK allele (0.0000004), highly suggesting this variant is benign. Taken together, this variant was classified as benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605771 SCV000744250 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
ITMI RCV000119978 SCV000084108 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605771 SCV000734185 benign Neuroblastoma 3 no assertion criteria provided clinical testing
Faculté Pluridciplinaire Nador,Université Mohamed Premier RCV001250936 SCV001250919 likely pathogenic Squamous cell lung carcinoma 2020-05-05 no assertion criteria provided clinical testing

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