ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) (rs1881421)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588550 SCV000883388 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562954 SCV000664946 benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616049 SCV000744249 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616049 SCV000734184 benign Neuroblastoma 3 no assertion criteria provided clinical testing
GeneDx RCV000119980 SCV000518937 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000616049 SCV000745622 benign Neuroblastoma 3 2016-01-15 no assertion criteria provided clinical testing
ITMI RCV000119980 SCV000084110 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000316289 SCV000429914 benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588550 SCV000698298 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.4587C>G variant affects a non-conserved nucleotide, resulting in amino acid change from Asp to Glu. 4/4 in-silico tools predict benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is found in 55828/121360 control chromosomes (14197 homozygotes) at a frequency of 0.4600198, which is about 1104047 times of the maximal expected frequency of a pathogenic allele (0.0000004), suggesting this variant is benign. Taken together, this variant was classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000119980 SCV000538270 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
PreventionGenetics RCV000119980 SCV000310079 benign not specified criteria provided, single submitter clinical testing

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