Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001326342.2(CELF2):c.904A>G(p.Thr302Ala) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
CELF2 (HGNC:2550): (CUGBP Elav-like family member 2) Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Review Status: criteria provided, single submitter
Collection Method: clinical testing
The c.904A>G (p.T302A) alteration is located in exon 9 (coding exon 9) of the CELF2 gene. This alteration results from a A to G substitution at nucleotide position 904, causing the threonine (T) at amino acid position 302 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
.;.;.;.;.;.;Loss of glycosylation at T302 (P = 0.0347);Loss of glycosylation at T302 (P = 0.0347);Loss of glycosylation at T302 (P = 0.0347);.;.;.;.;.;.;