chr9-93185139-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_006648.4(WNK2):c.210C>T(p.Pro70Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000115 in 1,300,742 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_006648.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000200 AC: 3AN: 150332Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000155 AC: 8AN: 51498Hom.: 0 AF XY: 0.0000640 AC XY: 2AN XY: 31264
GnomAD4 exome AF: 0.0000104 AC: 12AN: 1150410Hom.: 0 Cov.: 31 AF XY: 0.00000713 AC XY: 4AN XY: 561274
GnomAD4 genome AF: 0.0000200 AC: 3AN: 150332Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73356
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at