NM_001689.5:c.37_38delCT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001689.5(ATP5MC3):c.37_38delCT(p.Leu13AspfsTer23) variant causes a frameshift, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001689.5 frameshift, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATP5MC3 | NM_001689.5 | c.37_38delCT | p.Leu13AspfsTer23 | frameshift_variant, splice_region_variant | Exon 2 of 5 | ENST00000284727.9 | NP_001680.1 | |
ATP5MC3 | NM_001002258.5 | c.37_38delCT | p.Leu13AspfsTer23 | frameshift_variant, splice_region_variant | Exon 1 of 4 | NP_001002258.1 | ||
ATP5MC3 | NM_001190329.2 | c.37_38delCT | p.Leu13AspfsTer23 | frameshift_variant, splice_region_variant | Exon 2 of 4 | NP_001177258.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with ATP5G3-related conditions. This sequence change creates a premature translational stop signal (p.Leu13Aspfs*23) in the ATP5G3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ATP5G3 cause disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.