rs200254657
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015421.4(TMEM186):c.452G>A(p.Arg151Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000113 in 1,614,086 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015421.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM186 | ENST00000333050.7 | c.452G>A | p.Arg151Gln | missense_variant | Exon 2 of 2 | 1 | NM_015421.4 | ENSP00000331640.6 | ||
PMM2 | ENST00000566983.5 | c.-15-5657C>T | intron_variant | Intron 1 of 7 | 5 | ENSP00000457956.1 | ||||
TMEM186 | ENST00000564869.1 | n.31+1470G>A | intron_variant | Intron 1 of 2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251456Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135894
GnomAD4 exome AF: 0.000116 AC: 170AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.000105 AC XY: 76AN XY: 727248
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.452G>A (p.R151Q) alteration is located in exon 2 (coding exon 2) of the TMEM186 gene. This alteration results from a G to A substitution at nucleotide position 452, causing the arginine (R) at amino acid position 151 to be replaced by a glutamine (Q). 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