4-4240327-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001297551.2(TMEM128):c.392G>A(p.Gly131Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000144 in 1,460,400 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001297551.2 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 |
---|---|---|---|---|---|---|---|---|
TMEM128 | NM_001297551.2 | c.392G>A | p.Gly131Glu | missense_variant | Exon 3 of 5 | ENST00000382753.5 | NP_001284480.1 | |
TMEM128 | NM_001297552.2 | c.392G>A | p.Gly131Glu | missense_variant | Exon 3 of 5 | NP_001284481.1 | ||
TMEM128 | NM_032927.4 | c.320G>A | p.Gly107Glu | missense_variant | Exon 3 of 5 | NP_116316.1 | ||
TMEM128 | XM_005248034.4 | c.392G>A | p.Gly131Glu | missense_variant | Exon 3 of 5 | XP_005248091.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM128 | ENST00000382753.5 | c.392G>A | p.Gly131Glu | missense_variant | Exon 3 of 5 | 1 | NM_001297551.2 | ENSP00000372201.4 | ||
TMEM128 | ENST00000254742.6 | c.320G>A | p.Gly107Glu | missense_variant | Exon 3 of 5 | 1 | ENSP00000254742.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1460400Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726478
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.320G>A (p.G107E) alteration is located in exon 3 (coding exon 3) of the TMEM128 gene. This alteration results from a G to A substitution at nucleotide position 320, causing the glycine (G) at amino acid position 107 to be replaced by a glutamic acid (E). 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