ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3481G>A (p.Glu1161Lys)

gnomAD frequency: 0.00008  dbSNP: rs145194836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689555 SCV000817210 uncertain significance Neuroblastoma, susceptibility to, 3 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1161 of the ALK protein (p.Glu1161Lys). This variant is present in population databases (rs145194836, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 569028). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001020405 SCV001181880 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-06 criteria provided, single submitter clinical testing The p.E1161K variant (also known as c.3481G>A), located in coding exon 22 of the ALK gene, results from a G to A substitution at nucleotide position 3481. The glutamic acid at codon 1161 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Preventiongenetics, part of Exact Sciences RCV003403598 SCV004119564 uncertain significance ALK-related condition 2023-01-23 criteria provided, single submitter clinical testing The ALK c.3481G>A variant is predicted to result in the amino acid substitution p.Glu1161Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-29445244-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV000689555 SCV004191039 uncertain significance Neuroblastoma, susceptibility to, 3 2023-06-05 criteria provided, single submitter clinical testing

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