16-31484846-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_003041.4(SLC5A2):āc.226A>Gā(p.Ile76Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,832 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I76N) has been classified as Uncertain significance.
Frequency
Consequence
NM_003041.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC5A2 | NM_003041.4 | c.226A>G | p.Ile76Val | missense_variant | 3/14 | ENST00000330498.4 | |
SLC5A2 | XM_006721072.5 | c.226A>G | p.Ile76Val | missense_variant | 3/13 | ||
SLC5A2 | XM_024450402.2 | c.226A>G | p.Ile76Val | missense_variant | 3/11 | ||
SLC5A2 | NR_130783.2 | n.240A>G | non_coding_transcript_exon_variant | 3/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC5A2 | ENST00000330498.4 | c.226A>G | p.Ile76Val | missense_variant | 3/14 | 1 | NM_003041.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 251016Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135754
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461598Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727110
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74376
ClinVar
Submissions by phenotype
Familial renal glucosuria Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | New York Genome Center | Apr 29, 2022 | The c.226A>G (p.Ile76Val) missense variant identified in the SLC5A2 gene has not been reported in affected individuals in theliterature. The variant has a 0.00001314allele frequency in the gnomAD(v3) database (2 out of 152,234 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the populations represented in that database. The variant affects an evolutionarily conserved residue and in silico predictions are inconclusive of the variant's effect (CADD v1.6 = 23.3, REVEL = 0.570); however, there are no functional studies to support or refute these predictions. Based on the available evidence, the c.226A>G (p.Ile76Val) missense variant identified in the SLC5A2 gene is reported as a variant of uncertain significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at