ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.386G>A (p.Ser129Asn)

gnomAD frequency: 0.00379  dbSNP: rs61750965
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607388 SCV000732439 benign not specified 2017-12-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083908 SCV000756574 benign Reticular dysgenesis 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000635196 SCV001147221 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing AK2: BP4, BS2
Baylor Genetics RCV001083908 SCV001529095 uncertain significance Reticular dysgenesis 2018-05-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003917972 SCV004736589 benign AK2-related disorder 2019-05-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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