ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3837-9_3837-7dup (rs373764155)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232858 SCV000288352 benign Neuroblastoma 3 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000484508 SCV000569805 likely 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000484508 SCV000859937 benign not specified 2018-03-09 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761110 SCV000891025 likely benign Pituitary adenoma, familial isolated 2021-05-20 criteria provided, single submitter clinical testing The ALK c.3837-9_3837-7dup splice region change has a maximum subpopulation frequency of 0.97% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/2-29430144-G-GGGA?dataset=gnomad_r2_1). This population frequency exceeds the expected prevalence of a pathogenic variant causing ALK-related neuroblastic tumor susceptibility (BS1). In silico tools predict that this variant does not impact splicing (BP4). This variant been reported in >5 individuals without a personal or family history consistent with ALK-related neuroblastic tumor susceptibility (internal data). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria: BS1, BP4.

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