rs779910556
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_017849.4(TMEM127):c.667G>T(p.Glu223Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. E223E) has been classified as Likely benign.
Frequency
Consequence
NM_017849.4 stop_gained
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM127 | NM_017849.4 | c.667G>T | p.Glu223Ter | stop_gained | 4/4 | ENST00000258439.8 | |
TMEM127 | NM_001193304.3 | c.667G>T | p.Glu223Ter | stop_gained | 4/4 | ||
TMEM127 | NM_001407282.1 | c.415G>T | p.Glu139Ter | stop_gained | 3/3 | ||
TMEM127 | NM_001407283.1 | c.415G>T | p.Glu139Ter | stop_gained | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM127 | ENST00000258439.8 | c.667G>T | p.Glu223Ter | stop_gained | 4/4 | 1 | NM_017849.4 | P1 | |
TMEM127 | ENST00000432959.1 | c.667G>T | p.Glu223Ter | stop_gained | 4/4 | 1 | P1 | ||
TMEM127 | ENST00000435268.1 | c.415G>T | p.Glu139Ter | stop_gained | 3/3 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.