rs121909747
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_000340.2(SLC2A2):c.1166T>G(p.Leu389Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000687 in 1,454,986 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. L389P) has been classified as Pathogenic.
Frequency
Consequence
NM_000340.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC2A2 | NM_000340.2 | c.1166T>G | p.Leu389Arg | missense_variant | 9/11 | ENST00000314251.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC2A2 | ENST00000314251.8 | c.1166T>G | p.Leu389Arg | missense_variant | 9/11 | 1 | NM_000340.2 | P1 | |
SLC2A2 | ENST00000497642.5 | c.*633T>G | 3_prime_UTR_variant, NMD_transcript_variant | 8/10 | 1 | ||||
ENST00000655926.1 | n.291+4044A>C | intron_variant, non_coding_transcript_variant | |||||||
SLC2A2 | ENST00000469787.1 | c.*633T>G | 3_prime_UTR_variant, NMD_transcript_variant | 8/10 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1454986Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 724310
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at