chr12-98594016-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002635.4(SLC25A3):c.38C>T(p.Pro13Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,613,760 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002635.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC25A3 | NM_005888.4 | c.38C>T | p.Pro13Leu | missense_variant | Exon 2 of 8 | ENST00000228318.8 | NP_005879.1 | |
SLC25A3 | NM_002635.4 | c.38C>T | p.Pro13Leu | missense_variant | Exon 2 of 8 | ENST00000552981.6 | NP_002626.1 | |
SLC25A3 | NM_213611.3 | c.38C>T | p.Pro13Leu | missense_variant | Exon 1 of 7 | NP_998776.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC25A3 | ENST00000228318.8 | c.38C>T | p.Pro13Leu | missense_variant | Exon 2 of 8 | 5 | NM_005888.4 | ENSP00000228318.3 | ||
SLC25A3 | ENST00000552981.6 | c.38C>T | p.Pro13Leu | missense_variant | Exon 2 of 8 | 1 | NM_002635.4 | ENSP00000448708.2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152230Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250660Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135734
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461530Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727120
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152230Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74376
ClinVar
Submissions by phenotype
not provided Uncertain:1
The P13L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P13L variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P13L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P13L as a variant of uncertain significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at