7-96277250-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014251.3(SLC25A13):āc.158C>Gā(p.Pro53Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,458,866 control chromosomes in the GnomAD database, with no homozygous occurrence. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P53L) has been classified as Uncertain significance.
Frequency
Consequence
NM_014251.3 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 | UniProt |
---|---|---|---|---|---|---|---|
SLC25A13 | NM_014251.3 | c.158C>G | p.Pro53Arg | missense_variant | 3/18 | ENST00000265631.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A13 | ENST00000265631.10 | c.158C>G | p.Pro53Arg | missense_variant | 3/18 | 1 | NM_014251.3 | A1 | |
SLC25A13 | ENST00000416240.6 | c.158C>G | p.Pro53Arg | missense_variant | 3/18 | 1 | P5 | ||
SLC25A13 | ENST00000472162.2 | c.158C>G | p.Pro53Arg | missense_variant, NMD_transcript_variant | 3/5 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 247196Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133764
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1458866Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725584
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at