ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1500A>G (p.Gln500=) (rs2293564)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244976 SCV000310068 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000604893 SCV000429959 benign Neuroblastoma 3 2018-01-12 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 RCV000244976 SCV000518933 benign not specified 2016-03-02 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 RCV000244976 SCV000538273 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 RCV000564941 SCV000664935 benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586007 SCV000698285 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.1500A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts polymorphism outcome for this variant. This variant is found in 105818/121402 control chromosomes (46888 homozygotes) at a frequency of 0.8716331, which is about 2091919 times of the maximal expected frequency of a pathogenic allele (0.0000004), suggesting this variant to be the ancestral allele; therefore it is classified as Benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000604893 SCV000744257 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604893 SCV000734191 benign Neuroblastoma 3 no assertion criteria provided clinical testing

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