1-165743295-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_019026.6(TMCO1):c.340G>T(p.Val114Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019026.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMCO1 | NM_019026.6 | c.340G>T | p.Val114Leu | missense_variant | Exon 6 of 7 | ENST00000367881.11 | NP_061899.3 | |
TMCO1 | NM_001256164.1 | c.391G>T | p.Val131Leu | missense_variant | Exon 6 of 7 | NP_001243093.1 | ||
TMCO1 | NM_001256165.1 | c.304G>T | p.Val102Leu | missense_variant | Exon 6 of 7 | NP_001243094.1 | ||
TMCO1 | NR_045818.1 | n.434G>T | non_coding_transcript_exon_variant | Exon 6 of 7 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 151138Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome Cov.: 32
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 151138Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73732
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.340G>T (p.V114L) alteration is located in exon 6 (coding exon 6) of the TMCO1 gene. This alteration results from a G to T substitution at nucleotide position 340, causing the valine (V) at amino acid position 114 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
Publications
No publications associated with this variant yet.