8-22080822-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001387751.1(DMTN):āc.975G>Cā(p.Arg325Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000243 in 1,602,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.975G>C | p.Arg325Ser | missense_variant | Exon 14 of 16 | ENST00000358242.6 | NP_001374680.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000210 AC: 5AN: 238166Hom.: 0 AF XY: 0.0000308 AC XY: 4AN XY: 129958
GnomAD4 exome AF: 0.0000221 AC: 32AN: 1449786Hom.: 0 Cov.: 35 AF XY: 0.0000181 AC XY: 13AN XY: 718830
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.975G>C (p.R325S) alteration is located in exon 14 (coding exon 13) of the DMTN gene. This alteration results from a G to C substitution at nucleotide position 975, causing the arginine (R) at amino acid position 325 to be replaced by a serine (S). 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