chr20-32014946-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001365692.1(CCM2L):c.73G>A(p.Gly25Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000456 in 1,601,088 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001365692.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCM2L | NM_001365692.1 | c.73G>A | p.Gly25Arg | missense_variant | 2/10 | ENST00000452892.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCM2L | ENST00000452892.3 | c.73G>A | p.Gly25Arg | missense_variant | 2/10 | 2 | NM_001365692.1 | P1 | |
CCM2L | ENST00000262659.12 | c.73G>A | p.Gly25Arg | missense_variant | 2/9 | 1 | |||
ENST00000662576.1 | n.816-7297C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653258.1 | n.705-7297C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152128Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000296 AC: 7AN: 236232Hom.: 0 AF XY: 0.0000311 AC XY: 4AN XY: 128510
GnomAD4 exome AF: 0.0000483 AC: 70AN: 1448960Hom.: 0 Cov.: 31 AF XY: 0.0000430 AC XY: 31AN XY: 720878
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152128Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74316
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at