chr10-59653830-G-C
Variant summary
Our verdict is Uncertain significance. The variant received 3 ACMG points: 3P and 0B. PM2PP3
The NM_194298.3(SLC16A9):c.1196C>G(p.Ala399Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,613,948 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_194298.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC16A9 | ENST00000395348.8 | c.1196C>G | p.Ala399Gly | missense_variant | Exon 5 of 6 | 5 | NM_194298.3 | ENSP00000378757.3 | ||
SLC16A9 | ENST00000395347.1 | c.1196C>G | p.Ala399Gly | missense_variant | Exon 5 of 6 | 2 | ENSP00000378756.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152080Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000159 AC: 4AN: 251418 AF XY: 0.0000147 show subpopulations
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461868Hom.: 1 Cov.: 33 AF XY: 0.0000206 AC XY: 15AN XY: 727238 show subpopulations
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74286 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1196C>G (p.A399G) alteration is located in exon 5 (coding exon 4) of the SLC16A9 gene. This alteration results from a C to G substitution at nucleotide position 1196, causing the alanine (A) at amino acid position 399 to be replaced by a glycine (G). 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