19-19096194-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178526.5(SLC25A42):c.70G>T(p.Val24Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,356 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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_178526.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC25A42 | NM_178526.5 | c.70G>T | p.Val24Phe | missense_variant | Exon 2 of 8 | ENST00000318596.8 | NP_848621.2 | |
SLC25A42 | NM_001321544.2 | c.70G>T | p.Val24Phe | missense_variant | Exon 2 of 8 | NP_001308473.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC25A42 | ENST00000318596.8 | c.70G>T | p.Val24Phe | missense_variant | Exon 2 of 8 | 1 | NM_178526.5 | ENSP00000326693.6 | ||
SLC25A42 | ENST00000594070.5 | n.252G>T | non_coding_transcript_exon_variant | Exon 1 of 5 | 2 | |||||
SLC25A42 | ENST00000597661.5 | n.133G>T | non_coding_transcript_exon_variant | Exon 2 of 5 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152020Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250806Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135600
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461336Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726868
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152020Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74236
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at