8-22072355-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001387751.1(DMTN):c.634C>T(p.Arg212Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000225 in 1,603,380 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 (★).
Frequency
Consequence
NM_001387751.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DMTN | NM_001387751.1 | c.634C>T | p.Arg212Trp | missense_variant | Exon 9 of 16 | ENST00000358242.6 | NP_001374680.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151900Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000295 AC: 7AN: 237096Hom.: 0 AF XY: 0.0000390 AC XY: 5AN XY: 128072
GnomAD4 exome AF: 0.0000214 AC: 31AN: 1451480Hom.: 0 Cov.: 30 AF XY: 0.0000236 AC XY: 17AN XY: 721154
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151900Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74166
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.634C>T (p.R212W) alteration is located in exon 9 (coding exon 8) of the DMTN gene. This alteration results from a C to T substitution at nucleotide position 634, causing the arginine (R) at amino acid position 212 to be replaced by a tryptophan (W). 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