rs200216040
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000255189.8(DMGDH):c.856C>T(p.Arg286Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,614,112 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
ENST00000255189.8 stop_gained
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 |
---|---|---|---|---|---|---|---|---|
DMGDH | NM_013391.3 | c.856C>T | p.Arg286Ter | stop_gained | 6/16 | ENST00000255189.8 | NP_037523.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DMGDH | ENST00000255189.8 | c.856C>T | p.Arg286Ter | stop_gained | 6/16 | 1 | NM_013391.3 | ENSP00000255189 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152118Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000179 AC: 45AN: 251430Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135884
GnomAD4 exome AF: 0.000135 AC: 197AN: 1461876Hom.: 0 Cov.: 56 AF XY: 0.000118 AC XY: 86AN XY: 727236
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74426
ClinVar
Submissions by phenotype
Dimethylglycine dehydrogenase deficiency Uncertain:1
Uncertain significance, criteria provided, single submitter | reference population | Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | Mar 18, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at