19-1036169-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004368.4(CNN2):āc.430G>Cā(p.Val144Leu) 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. V144I) has been classified as Uncertain significance.
Frequency
Consequence
NM_004368.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNN2 | NM_004368.4 | c.430G>C | p.Val144Leu | missense_variant | Exon 5 of 7 | ENST00000263097.9 | NP_004359.1 | |
CNN2 | NM_001303501.2 | c.493G>C | p.Val165Leu | missense_variant | Exon 5 of 7 | NP_001290430.1 | ||
CNN2 | NM_001303499.2 | c.397G>C | p.Val133Leu | missense_variant | Exon 5 of 7 | NP_001290428.1 | ||
CNN2 | NM_201277.3 | c.391-247G>C | intron_variant | Intron 4 of 5 | NP_958434.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152116Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000657 AC: 1AN: 152116Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at