22-18530180-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001242313.1(TMEM191B):c.820C>G(p.Arg274Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 8/12 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001242313.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM191B | NM_001242313.1 | c.820C>G | p.Arg274Gly | missense_variant | Exon 8 of 9 | ENST00000612978.5 | NP_001229242.1 | |
TMEM191B | XM_011546160.4 | c.826C>G | p.Arg276Gly | missense_variant | Exon 9 of 10 | XP_011544462.1 | ||
TMEM191B | XR_951236.3 | n.940C>G | splice_region_variant, non_coding_transcript_exon_variant | Exon 8 of 8 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 57466Hom.: 0 Cov.: 4 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000333 AC: 2AN: 600070Hom.: 0 Cov.: 7 AF XY: 0.00000681 AC XY: 2AN XY: 293566
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 57466Hom.: 0 Cov.: 4 AF XY: 0.00 AC XY: 0AN XY: 27460
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.820C>G (p.R274G) alteration is located in exon 8 (coding exon 8) of the TMEM191B gene. This alteration results from a C to G substitution at nucleotide position 820, causing the arginine (R) at amino acid position 274 to be replaced by a glycine (G). 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