chr7-45000457-G-GA
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Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_031443.4(CCM2):c.30+94_30+95insA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000178 in 337,320 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000025 ( 0 hom., cov: 19)
Exomes 𝑓: 0.000014 ( 0 hom. )
Consequence
CCM2
NM_031443.4 intron
NM_031443.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.188
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: 0.0000246 AC: 3AN: 122022Hom.: 0 Cov.: 19
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GnomAD4 exome AF: 0.0000139 AC: 3AN: 215298Hom.: 0 AF XY: 0.00000922 AC XY: 1AN XY: 108418
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GnomAD4 genome AF: 0.0000246 AC: 3AN: 122022Hom.: 0 Cov.: 19 AF XY: 0.0000170 AC XY: 1AN XY: 58850
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ClinVar
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at