3-125083942-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024628.6(SLC12A8):āc.2093G>Cā(p.Arg698Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,454 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. R698H) has been classified as Uncertain significance.
Frequency
Consequence
NM_024628.6 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC12A8 | NM_024628.6 | c.2093G>C | p.Arg698Pro | missense_variant | 14/14 | ENST00000469902.6 | |
SLC12A8 | NM_001195483.2 | c.2093G>C | p.Arg698Pro | missense_variant | 13/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC12A8 | ENST00000469902.6 | c.2093G>C | p.Arg698Pro | missense_variant | 14/14 | 2 | NM_024628.6 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 248064Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134546
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461454Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 726968
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 10, 2023 | The c.2093G>C (p.R698P) alteration is located in exon 14 (coding exon 13) of the SLC12A8 gene. This alteration results from a G to C substitution at nucleotide position 2093, causing the arginine (R) at amino acid position 698 to be replaced by a proline (P). 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