16-8796316-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_015421.4(TMEM186):āc.278A>Gā(p.Tyr93Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000929 in 1,613,874 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM186 | ENST00000333050.7 | c.278A>G | p.Tyr93Cys | missense_variant | Exon 2 of 2 | 1 | NM_015421.4 | ENSP00000331640.6 | ||
PMM2 | ENST00000566983.5 | c.-15-5483T>C | intron_variant | Intron 1 of 7 | 5 | ENSP00000457956.1 | ||||
TMEM186 | ENST00000564869.1 | n.31+1296A>G | intron_variant | Intron 1 of 2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 151986Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251348Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135848
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727246
GnomAD4 genome AF: 0.0000658 AC: 10AN: 151986Hom.: 0 Cov.: 33 AF XY: 0.0000808 AC XY: 6AN XY: 74228
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.278A>G (p.Y93C) alteration is located in exon 2 (coding exon 2) of the TMEM186 gene. This alteration results from a A to G substitution at nucleotide position 278, causing the tyrosine (Y) at amino acid position 93 to be replaced by a cysteine (C). 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