11-26681166-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_178498.4(SLC5A12):c.1364G>A(p.Gly455Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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. G455V) has been classified as Uncertain significance.
Frequency
Consequence
NM_178498.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC5A12 | ENST00000396005.8 | c.1364G>A | p.Gly455Glu | missense_variant | Exon 12 of 15 | 1 | NM_178498.4 | ENSP00000379326.3 | ||
SLC5A12 | ENST00000527405.5 | n.804G>A | non_coding_transcript_exon_variant | Exon 12 of 15 | 2 | ENSP00000436011.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at