17-18088069-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001388.5(DRG2):c.46C>T(p.Arg16Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001388.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DRG2 | NM_001388.5 | c.46C>T | p.Arg16Trp | missense_variant | Exon 1 of 13 | ENST00000225729.8 | NP_001379.1 | |
DRG2 | NM_001330144.2 | c.46C>T | p.Arg16Trp | missense_variant | Exon 1 of 13 | NP_001317073.1 | ||
DRG2 | XM_005256499.4 | c.46C>T | p.Arg16Trp | missense_variant | Exon 1 of 13 | XP_005256556.1 | ||
DRG2 | XM_011523704.3 | c.46C>T | p.Arg16Trp | missense_variant | Exon 1 of 13 | XP_011522006.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1395966Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 688496
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.46C>T (p.R16W) alteration is located in exon 1 (coding exon 1) of the DRG2 gene. This alteration results from a C to T substitution at nucleotide position 46, causing the arginine (R) at amino acid position 16 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
Publications
No publications associated with this variant yet.