11-87067715-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_022918.4(TMEM135):c.163C>T(p.Arg55Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,514 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_022918.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM135 | NM_022918.4 | c.163C>T | p.Arg55Trp | missense_variant | Exon 2 of 15 | ENST00000305494.6 | NP_075069.3 | |
TMEM135 | NM_001168724.2 | c.163C>T | p.Arg55Trp | missense_variant | Exon 2 of 14 | NP_001162195.1 | ||
TMEM135 | NR_033149.2 | n.275C>T | non_coding_transcript_exon_variant | Exon 2 of 14 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461514Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727046
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.163C>T (p.R55W) alteration is located in exon 2 (coding exon 2) of the TMEM135 gene. This alteration results from a C to T substitution at nucleotide position 163, causing the arginine (R) at amino acid position 55 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