chr3-125092115-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024628.6(SLC12A8):c.1789G>A(p.Val597Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000054 in 1,611,926 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024628.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC12A8 | NM_024628.6 | c.1789G>A | p.Val597Ile | missense_variant | 11/14 | ENST00000469902.6 | |
SLC12A8 | NM_001195483.2 | c.1789G>A | p.Val597Ile | missense_variant | 10/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC12A8 | ENST00000469902.6 | c.1789G>A | p.Val597Ile | missense_variant | 11/14 | 2 | NM_024628.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000237 AC: 36AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000883 AC: 22AN: 249228Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135202
GnomAD4 exome AF: 0.0000343 AC: 50AN: 1459624Hom.: 0 Cov.: 29 AF XY: 0.0000317 AC XY: 23AN XY: 726210
GnomAD4 genome AF: 0.000243 AC: 37AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.1789G>A (p.V597I) alteration is located in exon 11 (coding exon 10) of the SLC12A8 gene. This alteration results from a G to A substitution at nucleotide position 1789, causing the valine (V) at amino acid position 597 to be replaced by an isoleucine (I). 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