chr12-908031-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_213655.5(WNK1):c.7584C>A(p.Tyr2528Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Y2528Y) has been classified as Benign.
Frequency
Consequence
NM_213655.5 stop_gained
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WNK1 | NM_213655.5 | c.7584C>A | p.Tyr2528Ter | stop_gained | 27/28 | ENST00000340908.9 | |
WNK1 | NM_018979.4 | c.6828C>A | p.Tyr2276Ter | stop_gained | 27/28 | ENST00000315939.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WNK1 | ENST00000340908.9 | c.7584C>A | p.Tyr2528Ter | stop_gained | 27/28 | 5 | NM_213655.5 | A2 | |
WNK1 | ENST00000315939.11 | c.6828C>A | p.Tyr2276Ter | stop_gained | 27/28 | 1 | NM_018979.4 | P2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 54
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at