rs2039503
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012120.3(CD2AP):āc.1204C>Gā(p.Leu402Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L402L) has been classified as Benign.
Frequency
Consequence
NM_012120.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD2AP | NM_012120.3 | c.1204C>G | p.Leu402Val | missense_variant | 12/18 | ENST00000359314.5 | |
CD2AP | XM_005248976.2 | c.1192C>G | p.Leu398Val | missense_variant | 12/18 | ||
CD2AP | XM_011514449.3 | c.1057C>G | p.Leu353Val | missense_variant | 11/17 | ||
CD2AP | XM_017010641.2 | c.1204C>G | p.Leu402Val | missense_variant | 12/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD2AP | ENST00000359314.5 | c.1204C>G | p.Leu402Val | missense_variant | 12/18 | 1 | NM_012120.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1460738Hom.: 0 Cov.: 39 AF XY: 0.00 AC XY: 0AN XY: 726758
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at