chr2-135616692-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001378107.1(R3HDM1):c.238C>T(p.Arg80Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,456,046 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 (★).
Frequency
Consequence
NM_001378107.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
R3HDM1 | NM_001378107.1 | c.238C>T | p.Arg80Trp | missense_variant | Exon 5 of 27 | ENST00000683871.1 | NP_001365036.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
R3HDM1 | ENST00000683871.1 | c.238C>T | p.Arg80Trp | missense_variant | Exon 5 of 27 | NM_001378107.1 | ENSP00000506980.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456046Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 724036
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.238C>T (p.R80W) alteration is located in exon 5 (coding exon 3) of the R3HDM1 gene. This alteration results from a C to T substitution at nucleotide position 238, causing the arginine (R) at amino acid position 80 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