20-5943679-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015939.5(TRMT6):āc.547A>Gā(p.Met183Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,450 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015939.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRMT6 | NM_015939.5 | c.547A>G | p.Met183Val | missense_variant | 6/11 | ENST00000203001.7 | NP_057023.2 | |
TRMT6 | NM_001281467.2 | c.37A>G | p.Met13Val | missense_variant | 5/10 | NP_001268396.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRMT6 | ENST00000203001.7 | c.547A>G | p.Met183Val | missense_variant | 6/11 | 1 | NM_015939.5 | ENSP00000203001.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460450Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726424
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 03, 2023 | The c.547A>G (p.M183V) alteration is located in exon 6 (coding exon 6) of the TRMT6 gene. This alteration results from a A to G substitution at nucleotide position 547, causing the methionine (M) at amino acid position 183 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.