ENST00000461377.5:n.383+304_383+305insGGGCCTGCTCT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The ENST00000461377.5(CCM2):n.383+304_383+305insGGGCCTGCTCT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00026 ( 0 hom., cov: 0)
Exomes 𝑓: 0.00022 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
CCM2
ENST00000461377.5 intron
ENST00000461377.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.25
Genes affected
CCM2 (HGNC:21708): (CCM2 scaffold protein) This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 29AN: 113274Hom.: 0 Cov.: 0 FAILED QC
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000224 AC: 2AN: 8944Hom.: 0 Cov.: 3 AF XY: 0.000220 AC XY: 1AN XY: 4554
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GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000256 AC: 29AN: 113346Hom.: 0 Cov.: 0 AF XY: 0.000280 AC XY: 15AN XY: 53570
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at