X-101023501-A-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_024917.6(TRMT2B):c.725T>C(p.Ile242Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000227 in 1,208,616 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 98 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 -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRMT2B | NM_024917.6 | c.725T>C | p.Ile242Thr | missense_variant | Exon 8 of 14 | ENST00000372936.4 | NP_079193.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 17AN: 112304Hom.: 0 Cov.: 23 AF XY: 0.000203 AC XY: 7AN XY: 34470
GnomAD3 exomes AF: 0.0000819 AC: 15AN: 183124Hom.: 0 AF XY: 0.000148 AC XY: 10AN XY: 67634
GnomAD4 exome AF: 0.000234 AC: 257AN: 1096312Hom.: 0 Cov.: 30 AF XY: 0.000251 AC XY: 91AN XY: 361882
GnomAD4 genome AF: 0.000151 AC: 17AN: 112304Hom.: 0 Cov.: 23 AF XY: 0.000203 AC XY: 7AN XY: 34470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.725T>C (p.I242T) alteration is located in exon 8 (coding exon 6) of the TRMT2B gene. This alteration results from a T to C substitution at nucleotide position 725, causing the isoleucine (I) at amino acid position 242 to be replaced by a threonine (T). 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