chr16-70514394-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015386.3(COG4):c.485C>G(p.Thr162Ser) 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. T162I) has been classified as Benign.
Frequency
Consequence
NM_015386.3 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 |
---|---|---|---|---|---|---|---|
COG4 | NM_015386.3 | c.485C>G | p.Thr162Ser | missense_variant | 4/19 | ENST00000323786.10 | |
COG4 | NM_001195139.2 | c.473C>G | p.Thr158Ser | missense_variant | 4/18 | ||
COG4 | NM_001365426.1 | c.59C>G | p.Thr20Ser | missense_variant | 5/20 | ||
COG4 | NR_158212.1 | n.496C>G | non_coding_transcript_exon_variant | 4/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COG4 | ENST00000323786.10 | c.485C>G | p.Thr162Ser | missense_variant | 4/19 | 1 | NM_015386.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 52
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at