rs1555501437
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001126108.2(SLC12A3):āc.2495A>Cā(p.Asp832Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,796 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001126108.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC12A3 | NM_001126108.2 | c.2495A>C | p.Asp832Ala | missense_variant | Exon 21 of 26 | ENST00000563236.6 | NP_001119580.2 | |
SLC12A3 | NM_000339.3 | c.2522A>C | p.Asp841Ala | missense_variant | Exon 21 of 26 | NP_000330.3 | ||
SLC12A3 | NM_001126107.2 | c.2519A>C | p.Asp840Ala | missense_variant | Exon 21 of 26 | NP_001119579.2 | ||
SLC12A3 | NM_001410896.1 | c.2492A>C | p.Asp831Ala | missense_variant | Exon 21 of 26 | NP_001397825.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC12A3 | ENST00000563236.6 | c.2495A>C | p.Asp832Ala | missense_variant | Exon 21 of 26 | 1 | NM_001126108.2 | ENSP00000456149.2 | ||
SLC12A3 | ENST00000438926.6 | c.2522A>C | p.Asp841Ala | missense_variant | Exon 21 of 26 | 1 | ENSP00000402152.2 | |||
SLC12A3 | ENST00000566786.5 | c.2519A>C | p.Asp840Ala | missense_variant | Exon 21 of 26 | 1 | ENSP00000457552.1 | |||
SLC12A3 | ENST00000262502.5 | c.2492A>C | p.Asp831Ala | missense_variant | Exon 21 of 26 | 5 | ENSP00000262502.5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461796Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727208
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.