rs137853092
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM2PP3PP5_Moderate
The NM_032387.5(WNK4):c.1693C>G(p.Gln565Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q565P) has been classified as Uncertain significance.
Frequency
Consequence
NM_032387.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WNK4 | NM_032387.5 | c.1693C>G | p.Gln565Glu | missense_variant | 7/19 | ENST00000246914.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WNK4 | ENST00000246914.10 | c.1693C>G | p.Gln565Glu | missense_variant | 7/19 | 1 | NM_032387.5 | P1 | |
WNK4 | ENST00000591448.5 | c.*194C>G | 3_prime_UTR_variant, NMD_transcript_variant | 6/18 | 1 | ||||
WNK4 | ENST00000587705.5 | n.373C>G | non_coding_transcript_exon_variant | 2/4 | 4 | ||||
WNK4 | ENST00000592072.1 | n.373C>G | non_coding_transcript_exon_variant | 2/6 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 37
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Pseudohypoaldosteronism type 2B Pathogenic:2Other:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 01, 2004 | - - |
not provided, no classification provided | literature only | GeneReviews | - | - - |
Pathogenic, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Jun 30, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at