rs76750525
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001126108.2(SLC12A3):c.249G>A(p.Arg83=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R83R) has been classified as Likely benign.
Frequency
Consequence
NM_001126108.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC12A3 | NM_001126108.2 | c.249G>A | p.Arg83= | synonymous_variant | 1/26 | ENST00000563236.6 | |
SLC12A3 | NM_000339.3 | c.249G>A | p.Arg83= | synonymous_variant | 1/26 | ||
SLC12A3 | NM_001126107.2 | c.249G>A | p.Arg83= | synonymous_variant | 1/26 | ||
SLC12A3 | NM_001410896.1 | c.249G>A | p.Arg83= | synonymous_variant | 1/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC12A3 | ENST00000563236.6 | c.249G>A | p.Arg83= | synonymous_variant | 1/26 | 1 | NM_001126108.2 | A1 | |
SLC12A3 | ENST00000438926.6 | c.249G>A | p.Arg83= | synonymous_variant | 1/26 | 1 | A1 | ||
SLC12A3 | ENST00000566786.5 | c.249G>A | p.Arg83= | synonymous_variant | 1/26 | 1 | P4 | ||
SLC12A3 | ENST00000262502.5 | c.249G>A | p.Arg83= | synonymous_variant | 1/26 | 5 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at