chr16-8796173-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015421.4(TMEM186):c.421C>T(p.Arg141Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000926 in 1,614,206 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM186 | ENST00000333050.7 | c.421C>T | p.Arg141Trp | missense_variant | Exon 2 of 2 | 1 | NM_015421.4 | ENSP00000331640.6 | ||
PMM2 | ENST00000566983.5 | c.-15-5626G>A | intron_variant | Intron 1 of 7 | 5 | ENSP00000457956.1 | ||||
TMEM186 | ENST00000564869.1 | n.31+1439C>T | intron_variant | Intron 1 of 2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.000637 AC: 97AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000648 AC: 163AN: 251470Hom.: 0 AF XY: 0.000633 AC XY: 86AN XY: 135910
GnomAD4 exome AF: 0.000956 AC: 1398AN: 1461894Hom.: 1 Cov.: 31 AF XY: 0.000963 AC XY: 700AN XY: 727248
GnomAD4 genome AF: 0.000637 AC: 97AN: 152312Hom.: 0 Cov.: 33 AF XY: 0.000631 AC XY: 47AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.421C>T (p.R141W) alteration is located in exon 2 (coding exon 2) of the TMEM186 gene. This alteration results from a C to T substitution at nucleotide position 421, causing the arginine (R) at amino acid position 141 to be replaced by a tryptophan (W). 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