NM_001126108.2:c.1276A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 6P and 4B. PM1PM2PM5BP4_Strong
The NM_001126108.2(SLC12A3):āc.1276A>Gā(p.Asn426Asp) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N426Y) has been classified as Pathogenic.
Frequency
Consequence
NM_001126108.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC12A3 | NM_001126108.2 | c.1276A>G | p.Asn426Asp | missense_variant | Exon 10 of 26 | ENST00000563236.6 | NP_001119580.2 | |
SLC12A3 | NM_000339.3 | c.1276A>G | p.Asn426Asp | missense_variant | Exon 10 of 26 | NP_000330.3 | ||
SLC12A3 | NM_001126107.2 | c.1273A>G | p.Asn425Asp | missense_variant | Exon 10 of 26 | NP_001119579.2 | ||
SLC12A3 | NM_001410896.1 | c.1273A>G | p.Asn425Asp | missense_variant | Exon 10 of 26 | NP_001397825.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC12A3 | ENST00000563236.6 | c.1276A>G | p.Asn426Asp | missense_variant | Exon 10 of 26 | 1 | NM_001126108.2 | ENSP00000456149.2 | ||
SLC12A3 | ENST00000438926.6 | c.1276A>G | p.Asn426Asp | missense_variant | Exon 10 of 26 | 1 | ENSP00000402152.2 | |||
SLC12A3 | ENST00000566786.5 | c.1273A>G | p.Asn425Asp | missense_variant | Exon 10 of 26 | 1 | ENSP00000457552.1 | |||
SLC12A3 | ENST00000262502.5 | c.1273A>G | p.Asn425Asp | missense_variant | Exon 10 of 26 | 5 | ENSP00000262502.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.000162 AC: 40AN: 247430Hom.: 0 AF XY: 0.000134 AC XY: 18AN XY: 134634
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000336 AC: 49AN: 1459980Hom.: 0 Cov.: 33 AF XY: 0.0000427 AC XY: 31AN XY: 726366
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at