2-28861156-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017910.4(TRMT61B):c.955G>A(p.Gly319Arg) variant causes a missense 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. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017910.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRMT61B | NM_017910.4 | c.955G>A | p.Gly319Arg | missense_variant | 3/7 | ENST00000306108.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRMT61B | ENST00000306108.10 | c.955G>A | p.Gly319Arg | missense_variant | 3/7 | 1 | NM_017910.4 | P1 | |
TRMT61B | ENST00000484060.1 | n.191G>A | non_coding_transcript_exon_variant | 2/4 | 5 | ||||
TRMT61B | ENST00000490390.5 | n.335G>A | non_coding_transcript_exon_variant | 1/3 | 3 | ||||
TRMT61B | ENST00000439947.1 | c.955G>A | p.Gly319Arg | missense_variant, NMD_transcript_variant | 3/6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
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.