chr8-22081186-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001387751.1(DMTN):c.1097G>A(p.Arg366Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,613,206 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DMTN | NM_001387751.1 | c.1097G>A | p.Arg366Gln | missense_variant | Exon 15 of 16 | ENST00000358242.6 | NP_001374680.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151434Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251234Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135804
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461772Hom.: 0 Cov.: 36 AF XY: 0.00000963 AC XY: 7AN XY: 727190
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151434Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 73864
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1097G>A (p.R366Q) alteration is located in exon 15 (coding exon 14) of the DMTN gene. This alteration results from a G to A substitution at nucleotide position 1097, causing the arginine (R) at amino acid position 366 to be replaced by a glutamine (Q). 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