X-101021223-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_024917.6(TRMT2B):c.944G>T(p.Arg315Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000102 in 1,209,749 control chromosomes in the GnomAD database, including 1 homozygotes. There are 36 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024917.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRMT2B | NM_024917.6 | c.944G>T | p.Arg315Leu | missense_variant | Exon 10 of 14 | ENST00000372936.4 | NP_079193.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRMT2B | ENST00000372936.4 | c.944G>T | p.Arg315Leu | missense_variant | Exon 10 of 14 | 1 | NM_024917.6 | ENSP00000362027.3 | ||
TRMT2B | ENST00000372935.5 | c.944G>T | p.Arg315Leu | missense_variant | Exon 10 of 14 | 1 | ENSP00000362026.1 | |||
TRMT2B | ENST00000545398.5 | c.944G>T | p.Arg315Leu | missense_variant | Exon 9 of 13 | 1 | ENSP00000438134.1 | |||
TRMT2B | ENST00000372939.5 | c.809G>T | p.Arg270Leu | missense_variant | Exon 10 of 14 | 1 | ENSP00000362030.1 |
Frequencies
GnomAD3 genomes AF: 0.000536 AC: 60AN: 111860Hom.: 0 Cov.: 23 AF XY: 0.000705 AC XY: 24AN XY: 34022
GnomAD3 exomes AF: 0.0000928 AC: 17AN: 183172Hom.: 0 AF XY: 0.0000591 AC XY: 4AN XY: 67724
GnomAD4 exome AF: 0.0000574 AC: 63AN: 1097836Hom.: 1 Cov.: 30 AF XY: 0.0000330 AC XY: 12AN XY: 363192
GnomAD4 genome AF: 0.000536 AC: 60AN: 111913Hom.: 0 Cov.: 23 AF XY: 0.000704 AC XY: 24AN XY: 34085
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.944G>T (p.R315L) alteration is located in exon 10 (coding exon 8) of the TRMT2B gene. This alteration results from a G to T substitution at nucleotide position 944, causing the arginine (R) at amino acid position 315 to be replaced by a leucine (L). 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