chr4-165085679-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001100389.2(TMEM192):c.584G>T(p.Arg195Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000693 in 1,444,012 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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. R195Q) has been classified as Likely benign.
Frequency
Consequence
NM_001100389.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM192 | ENST00000306480.11 | c.584G>T | p.Arg195Leu | missense_variant | Exon 5 of 6 | 1 | NM_001100389.2 | ENSP00000305069.4 | ||
TMEM192 | ENST00000506087.5 | c.572G>T | p.Arg191Leu | missense_variant | Exon 6 of 7 | 2 | ENSP00000425335.1 | |||
TMEM192 | ENST00000505095.1 | c.161G>T | p.Arg54Leu | missense_variant | Exon 6 of 6 | 3 | ENSP00000424590.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000418 AC: 1AN: 239382Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129620
GnomAD4 exome AF: 6.93e-7 AC: 1AN: 1444012Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 718522
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at