15-48207790-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000338.3(SLC12A1):c.71G>A(p.Ser24Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000684 in 1,613,482 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. S24S) has been classified as Likely benign.
Frequency
Consequence
NM_000338.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC12A1 | NM_000338.3 | c.71G>A | p.Ser24Asn | missense_variant | 2/27 | ENST00000380993.8 | |
SLC12A1 | NM_001184832.2 | c.71G>A | p.Ser24Asn | missense_variant | 2/27 | ||
SLC12A1 | NM_001384136.1 | c.71G>A | p.Ser24Asn | missense_variant | 2/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC12A1 | ENST00000380993.8 | c.71G>A | p.Ser24Asn | missense_variant | 2/27 | 5 | NM_000338.3 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00383 AC: 582AN: 152148Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00108 AC: 270AN: 250344Hom.: 3 AF XY: 0.000858 AC XY: 116AN XY: 135264
GnomAD4 exome AF: 0.000349 AC: 510AN: 1461216Hom.: 1 Cov.: 31 AF XY: 0.000285 AC XY: 207AN XY: 726828
GnomAD4 genome ? AF: 0.00390 AC: 594AN: 152266Hom.: 4 Cov.: 32 AF XY: 0.00427 AC XY: 318AN XY: 74444
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Sep 28, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at