12-879688-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_018979.4(WNK1):āc.2489C>Gā(p.Pro830Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,772 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P830L) has been classified as Uncertain significance.
Frequency
Consequence
NM_018979.4 missense
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 |
---|---|---|---|---|---|---|---|
WNK1 | NM_018979.4 | c.2489C>G | p.Pro830Arg | missense_variant | 11/28 | ENST00000315939.11 | |
WNK1 | NM_213655.5 | c.3867+1327C>G | intron_variant | ENST00000340908.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WNK1 | ENST00000315939.11 | c.2489C>G | p.Pro830Arg | missense_variant | 11/28 | 1 | NM_018979.4 | P2 | |
WNK1 | ENST00000340908.9 | c.3867+1327C>G | intron_variant | 5 | NM_213655.5 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151786Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251450Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135898
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461868Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 727242
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151904Hom.: 0 Cov.: 29 AF XY: 0.0000135 AC XY: 1AN XY: 74266
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at