rs759482927
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001143780.3(SLC25A39):c.932G>C(p.Arg311Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,594 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R311Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001143780.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes  
GnomAD4 exome  AF:  6.84e-7  AC: 1AN: 1461594Hom.:  0  Cov.: 31 AF XY:  0.00000138  AC XY: 1AN XY: 727112 show subpopulations 
Age Distribution
GnomAD4 genome  
ClinVar
Not reported inComputational scores
Source: 
Splicing
 Find out detailed SpliceAI scores and Pangolin per-transcript scores at