ENST00000434431.2:c.169G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000434431.2(TMEM247):c.169G>A(p.Glu57Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000129 in 1,551,480 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. E57Q) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000434431.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM247 | NM_001424184.1 | c.169G>A | p.Glu57Lys | missense_variant | Exon 2 of 3 | NP_001411113.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM247 | ENST00000434431.2 | c.169G>A | p.Glu57Lys | missense_variant | Exon 2 of 3 | 5 | ENSP00000388684.1 | |||
ENSG00000284608 | ENST00000432241.5 | n.365-3788G>A | intron_variant | Intron 4 of 4 | 3 | |||||
ENSG00000253515 | ENST00000517716.2 | n.80-19275G>A | intron_variant | Intron 2 of 3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 32
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1399288Hom.: 0 Cov.: 32 AF XY: 0.00000145 AC XY: 1AN XY: 690152
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at