rs6489756
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000315939.11(WNK1):c.1312-1821G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.508 in 152,070 control chromosomes in the GnomAD database, including 20,112 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.51 ( 20112 hom., cov: 32)
Consequence
WNK1
ENST00000315939.11 intron
ENST00000315939.11 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.209
Genes affected
WNK1 (HGNC:14540): (WNK lysine deficient protein kinase 1) This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.792 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WNK1 | NM_018979.4 | c.1312-1821G>A | intron_variant | ENST00000315939.11 | NP_061852.3 | |||
WNK1 | NM_213655.5 | c.1312-1821G>A | intron_variant | ENST00000340908.9 | NP_998820.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WNK1 | ENST00000315939.11 | c.1312-1821G>A | intron_variant | 1 | NM_018979.4 | ENSP00000313059 | P2 | |||
WNK1 | ENST00000340908.9 | c.1312-1821G>A | intron_variant | 5 | NM_213655.5 | ENSP00000341292 | A2 |
Frequencies
GnomAD3 genomes AF: 0.508 AC: 77184AN: 151952Hom.: 20107 Cov.: 32
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GnomAD4 genome AF: 0.508 AC: 77231AN: 152070Hom.: 20112 Cov.: 32 AF XY: 0.508 AC XY: 37767AN XY: 74352
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at