chr15-48226575-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000338.3(SLC12A1):c.724+4A>T variant causes a splice donor region, intron change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000697 in 1,434,550 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000338.3 splice_donor_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC12A1 | NM_000338.3 | c.724+4A>T | splice_donor_region_variant, intron_variant | ENST00000380993.8 | |||
SLC12A1 | NM_001184832.2 | c.629-504A>T | intron_variant | ||||
SLC12A1 | NM_001384136.1 | c.724+628A>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC12A1 | ENST00000380993.8 | c.724+4A>T | splice_donor_region_variant, intron_variant | 5 | NM_000338.3 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244754Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132762
GnomAD4 exome AF: 6.97e-7 AC: 1AN: 1434550Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 715124
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at