chrX-24494765-ACTT-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_005391.5(PDK3):c.132_134delTTC(p.Ser45del) variant causes a disruptive inframe deletion change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005391.5 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PDK3 | NM_005391.5 | c.132_134delTTC | p.Ser45del | disruptive_inframe_deletion | Exon 2 of 11 | ENST00000379162.9 | NP_005382.1 | |
PDK3 | NM_001142386.3 | c.132_134delTTC | p.Ser45del | disruptive_inframe_deletion | Exon 2 of 12 | NP_001135858.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PDK3 | ENST00000379162.9 | c.132_134delTTC | p.Ser45del | disruptive_inframe_deletion | Exon 2 of 11 | 1 | NM_005391.5 | ENSP00000368460.4 | ||
PDK3 | ENST00000568479.2 | c.132_134delTTC | p.Ser45del | disruptive_inframe_deletion | Exon 2 of 12 | 6 | ENSP00000498864.1 | |||
PDK3 | ENST00000493226.2 | n.344_346delTTC | non_coding_transcript_exon_variant | Exon 2 of 3 | 5 | |||||
PDK3 | ENST00000648777.1 | n.132_134delTTC | non_coding_transcript_exon_variant | Exon 2 of 12 | ENSP00000497727.1 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 genome Cov.: 24
ClinVar
Submissions by phenotype
Charcot-Marie-Tooth disease X-linked dominant 6 Uncertain:1
This variant, c.132_134del, results in the deletion of 1 amino acid(s) of the PDK3 protein (p.Ser45del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PDK3-related conditions. 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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.