chr3-125092170-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024628.6(SLC12A8):c.1734A>T(p.Glu578Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,460,674 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC12A8 | NM_024628.6 | c.1734A>T | p.Glu578Asp | missense_variant | 11/14 | ENST00000469902.6 | |
SLC12A8 | NM_001195483.2 | c.1734A>T | p.Glu578Asp | missense_variant | 10/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC12A8 | ENST00000469902.6 | c.1734A>T | p.Glu578Asp | missense_variant | 11/14 | 2 | NM_024628.6 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249364Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135274
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460674Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 726664
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 04, 2023 | The c.1734A>T (p.E578D) alteration is located in exon 11 (coding exon 10) of the SLC12A8 gene. This alteration results from a A to T substitution at nucleotide position 1734, causing the glutamic acid (E) at amino acid position 578 to be replaced by an aspartic acid (D). 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