ClinVar Miner

Submissions for variant NM_018263.6(ASXL2):c.13G>A (p.Gly5Arg)

gnomAD frequency: 0.00012  dbSNP: rs371056638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001357478 SCV004553923 likely benign not provided 2023-10-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357478 SCV001552960 uncertain significance not provided no assertion criteria provided clinical testing The ASXL2 p.Gly5Arg variant was not identified in the ClinVar, Cosmic or MutDB databases. The variant was identified in dbSNP (ID: rs371056638), LOVD 3.0 and in control databases in 30 of 280406 chromosomes at a frequency of 0.000107 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European (non-Finnish) in 28 of 128260 chromosomes (freq: 0.000218), African in 1 of 24192 chromosomes (freq: 0.000041) and European (Finnish) in 1 of 24960 chromosomes (freq: 0.00004); it was not observed in the Latino, Ashkenazi Jewish, East Asian, Other, and South Asian populations. Lasho et al. (2018) identified the p.Gly5Arg variant in an individual with myelodysplastic/myeloproliferative neoplasms (Lasho_2018_PMID: 29531217). The p.Gly5 residue is conserved in mammals but not in more distantly related organisms and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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