20-46021881-T-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBS1_Supporting
The NM_001134771.2(SLC12A5):c.116T>A(p.Val39Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000203 in 1,525,824 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V39F) has been classified as Likely benign.
Frequency
Consequence
NM_001134771.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC12A5 | ENST00000454036.6 | c.116T>A | p.Val39Asp | missense_variant | Exon 1 of 26 | 5 | ENSP00000387694.1 | |||
SLC12A5 | ENST00000626701.1 | c.116T>A | p.Val39Asp | missense_variant | Exon 1 of 3 | 3 | ENSP00000487372.1 | |||
SLC12A5 | ENST00000413737.2 | c.41T>A | p.Val14Asp | missense_variant | Exon 1 of 3 | 3 | ENSP00000487291.1 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151700Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000244 AC: 3AN: 123158Hom.: 0 AF XY: 0.0000441 AC XY: 3AN XY: 68004
GnomAD4 exome AF: 0.0000204 AC: 28AN: 1374012Hom.: 0 Cov.: 32 AF XY: 0.0000251 AC XY: 17AN XY: 677892
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151812Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74208
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 34 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Daryl Scott Lab, Baylor College of Medicine | Nov 10, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at