rs1554091122
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_138773.4(SLC25A46):c.134C>G(p.Thr45Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_138773.4 missense
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC25A46 | NM_138773.4 | c.134C>G | p.Thr45Ser | missense_variant | 1/8 | ENST00000355943.8 | NP_620128.1 | |
SLC25A46 | NM_001303249.3 | c.134C>G | p.Thr45Ser | missense_variant | 1/8 | NP_001290178.1 | ||
SLC25A46 | NM_001303250.3 | c.10+1006C>G | intron_variant | NP_001290179.1 | ||||
SLC25A46 | NR_138151.2 | n.247C>G | non_coding_transcript_exon_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC25A46 | ENST00000355943.8 | c.134C>G | p.Thr45Ser | missense_variant | 1/8 | 1 | NM_138773.4 | ENSP00000348211 | P1 | |
SLC25A46 | ENST00000447245.6 | c.134C>G | p.Thr45Ser | missense_variant | 1/8 | 2 | ENSP00000399717 | |||
SLC25A46 | ENST00000513807.5 | c.-204+1006C>G | intron_variant | 2 | ENSP00000421134 | |||||
SLC25A46 | ENST00000508781.5 | n.112+1006C>G | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at