chr22-23882555-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001024939.4(SLC2A11):c.791C>T(p.Pro264Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000161 in 1,611,590 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001024939.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC2A11 | NM_001024939.4 | c.791C>T | p.Pro264Leu | missense_variant | 7/12 | ENST00000316185.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC2A11 | ENST00000316185.9 | c.791C>T | p.Pro264Leu | missense_variant | 7/12 | 1 | NM_001024939.4 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000865 AC: 21AN: 242830Hom.: 0 AF XY: 0.0000981 AC XY: 13AN XY: 132544
GnomAD4 exome AF: 0.000166 AC: 242AN: 1459388Hom.: 1 Cov.: 33 AF XY: 0.000152 AC XY: 110AN XY: 725926
GnomAD4 genome ? AF: 0.000112 AC: 17AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2023 | The c.803C>T (p.P268L) alteration is located in exon 8 (coding exon 7) of the SLC2A11 gene. This alteration results from a C to T substitution at nucleotide position 803, causing the proline (P) at amino acid position 268 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at