ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)

gnomAD frequency: 0.00016  dbSNP: rs147858673
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226263 SCV000288324 benign Neuroblastoma, susceptibility to, 3 2025-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507604 SCV000602466 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000226263 SCV001302366 likely benign Neuroblastoma, susceptibility to, 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Sema4, Sema4 RCV002256160 SCV002528416 likely benign Hereditary cancer-predisposing syndrome 2021-03-12 criteria provided, single submitter curation
GeneDx RCV002305468 SCV002599731 uncertain significance not provided 2022-11-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with breast cancer (Harismendy et al., 2013); This variant is associated with the following publications: (PMID: 25054154, 24326041)
Revvity Omics, Revvity RCV002305468 SCV004238571 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002305468 SCV005411659 uncertain significance not provided 2024-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002256160 SCV005590421 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-06 criteria provided, single submitter clinical testing The p.E717K variant (also known as c.2149G>A), located in coding exon 12 of the ALK gene, results from a G to A substitution at nucleotide position 2149. The glutamic acid at codon 717 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000226263 SCV005656248 likely benign Neuroblastoma, susceptibility to, 3 2024-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955342 SCV004774155 likely benign ALK-related disorder 2020-09-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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