rs1051038
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007357.3(COG2):c.2217A>C(p.Ter739TyrextTer11) variant causes a stop lost 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. *739*) has been classified as Benign.
Frequency
Consequence
NM_007357.3 stop_lost
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COG2 | NM_007357.3 | c.2217A>C | p.Ter739TyrextTer11 | stop_lost | 18/18 | ENST00000366669.9 | |
COG2 | NM_001145036.2 | c.2214A>C | p.Ter738TyrextTer11 | stop_lost | 18/18 | ||
COG2 | XM_047449445.1 | c.1878A>C | p.Ter626TyrextTer11 | stop_lost | 16/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COG2 | ENST00000366669.9 | c.2217A>C | p.Ter739TyrextTer11 | stop_lost | 18/18 | 1 | NM_007357.3 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 27
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at