14-103534748-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000389749.9(TRMT61A):c.797G>A(p.Arg266His) variant causes a missense change. The variant allele was found at a frequency of 0.0000258 in 1,591,642 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R266C) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000389749.9 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRMT61A | NM_152307.3 | c.797G>A | p.Arg266His | missense_variant | 4/4 | ENST00000389749.9 | NP_689520.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRMT61A | ENST00000389749.9 | c.797G>A | p.Arg266His | missense_variant | 4/4 | 1 | NM_152307.3 | ENSP00000374399.4 | ||
TRMT61A | ENST00000299202.4 | c.500G>A | p.Arg167His | missense_variant | 3/3 | 1 | ENSP00000299202.4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152224Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000285 AC: 6AN: 210158Hom.: 0 AF XY: 0.0000517 AC XY: 6AN XY: 116024
GnomAD4 exome AF: 0.0000278 AC: 40AN: 1439418Hom.: 0 Cov.: 31 AF XY: 0.0000336 AC XY: 24AN XY: 715062
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152224Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.797G>A (p.R266H) alteration is located in exon 4 (coding exon 3) of the TRMT61A gene. This alteration results from a G to A substitution at nucleotide position 797, causing the arginine (R) at amino acid position 266 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at