2-3387645-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PVS1_StrongPM2
The NM_016030.6(TRAPPC12):c.22G>T(p.Glu8*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000718 in 1,392,656 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016030.6 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRAPPC12 | ENST00000324266.10 | c.22G>T | p.Glu8* | stop_gained | Exon 2 of 12 | 1 | NM_016030.6 | ENSP00000324318.5 | ||
TRAPPC12 | ENST00000382110.6 | c.22G>T | p.Glu8* | stop_gained | Exon 2 of 12 | 2 | ENSP00000371544.2 | |||
TRAPPC12 | ENST00000482645.1 | n.183G>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.18e-7 AC: 1AN: 1392656Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 685788
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.