rs202208840
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_177550.5(SLC13A5):c.1628C>T(p.Ala543Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,874 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A543D) has been classified as Uncertain significance.
Frequency
Consequence
NM_177550.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC13A5 | NM_177550.5 | c.1628C>T | p.Ala543Val | missense_variant | Exon 12 of 12 | ENST00000433363.7 | NP_808218.1 | |
SLC13A5 | NM_001284509.2 | c.1577C>T | p.Ala526Val | missense_variant | Exon 12 of 12 | NP_001271438.1 | ||
SLC13A5 | NM_001284510.2 | c.1499C>T | p.Ala500Val | missense_variant | Exon 11 of 11 | NP_001271439.1 | ||
SLC13A5 | NM_001143838.3 | c.1490C>T | p.Ala497Val | missense_variant | Exon 11 of 11 | NP_001137310.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461874Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727238
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.