1-223766378-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001748.5(CAPN2):c.1702A>G(p.Lys568Glu) 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K568Q) has been classified as Likely benign.
Frequency
Consequence
NM_001748.5 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 |
---|---|---|---|---|---|---|---|
CAPN2 | NM_001748.5 | c.1702A>G | p.Lys568Glu | missense_variant | 16/21 | ENST00000295006.6 | |
CAPN2 | NM_001146068.2 | c.1468A>G | p.Lys490Glu | missense_variant | 16/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAPN2 | ENST00000295006.6 | c.1702A>G | p.Lys568Glu | missense_variant | 16/21 | 1 | NM_001748.5 | P1 | |
CAPN2 | ENST00000433674.6 | c.1468A>G | p.Lys490Glu | missense_variant | 16/21 | 2 | |||
CAPN2 | ENST00000474026.5 | n.2031A>G | non_coding_transcript_exon_variant | 5/9 | 2 | ||||
CAPN2 | ENST00000487223.5 | n.1429A>G | non_coding_transcript_exon_variant | 5/10 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.