NM_015421.4:c.424G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015421.4(TMEM186):āc.424G>Cā(p.Val142Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,614,108 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.424G>C | p.Val142Leu | missense_variant | Exon 2 of 2 | 1 | NM_015421.4 | ENSP00000331640.6 | ||
PMM2 | ENST00000566983.5 | c.-15-5629C>G | intron_variant | Intron 1 of 7 | 5 | ENSP00000457956.1 | ||||
TMEM186 | ENST00000564869.1 | n.31+1442G>C | intron_variant | Intron 1 of 2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727248
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.424G>C (p.V142L) alteration is located in exon 2 (coding exon 2) of the TMEM186 gene. This alteration results from a G to C substitution at nucleotide position 424, causing the valine (V) at amino acid position 142 to be replaced by a leucine (L). 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