19-1036169-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004368.4(CNN2):c.430G>T(p.Val144Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,374 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNN2 | NM_004368.4 | c.430G>T | p.Val144Phe | missense_variant | Exon 5 of 7 | ENST00000263097.9 | NP_004359.1 | |
CNN2 | NM_001303501.2 | c.493G>T | p.Val165Phe | missense_variant | Exon 5 of 7 | NP_001290430.1 | ||
CNN2 | NM_001303499.2 | c.397G>T | p.Val133Phe | missense_variant | Exon 5 of 7 | NP_001290428.1 | ||
CNN2 | NM_201277.3 | c.391-247G>T | intron_variant | Intron 4 of 5 | NP_958434.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249234Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134868
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460374Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726404
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at