chr8-23566184-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016612.4(SLC25A37):c.287G>T(p.Arg96Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000344 in 1,453,232 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. R96Q) has been classified as Likely benign.
Frequency
Consequence
NM_016612.4 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 | UniProt |
---|---|---|---|---|---|---|---|
SLC25A37 | NM_016612.4 | c.287G>T | p.Arg96Leu | missense_variant | 2/4 | ENST00000519973.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A37 | ENST00000519973.6 | c.287G>T | p.Arg96Leu | missense_variant | 2/4 | 1 | NM_016612.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240552Hom.: 0 AF XY: 0.00000764 AC XY: 1AN XY: 130852
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1453232Hom.: 0 Cov.: 51 AF XY: 0.00000138 AC XY: 1AN XY: 722780
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at