rs1429621198
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000258439.8(TMEM127):c.604G>C(p.Glu202Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E202K) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000258439.8 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM127 | NM_017849.4 | c.604G>C | p.Glu202Gln | missense_variant | 4/4 | ENST00000258439.8 | NP_060319.1 | |
TMEM127 | NM_001193304.3 | c.604G>C | p.Glu202Gln | missense_variant | 4/4 | NP_001180233.1 | ||
TMEM127 | NM_001407282.1 | c.352G>C | p.Glu118Gln | missense_variant | 3/3 | NP_001394211.1 | ||
TMEM127 | NM_001407283.1 | c.352G>C | p.Glu118Gln | missense_variant | 3/3 | NP_001394212.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM127 | ENST00000258439.8 | c.604G>C | p.Glu202Gln | missense_variant | 4/4 | 1 | NM_017849.4 | ENSP00000258439 | P1 | |
TMEM127 | ENST00000432959.1 | c.604G>C | p.Glu202Gln | missense_variant | 4/4 | 1 | ENSP00000416660 | P1 | ||
TMEM127 | ENST00000435268.1 | c.352G>C | p.Glu118Gln | missense_variant | 3/3 | 3 | ENSP00000411810 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
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.