NM_053284.3:c.235C>T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_053284.3(WFIKKN1):c.235C>T(p.Arg79Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000319 in 1,599,450 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R79H) has been classified as Uncertain significance.
Frequency
Consequence
NM_053284.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152276Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000434 AC: 10AN: 230640Hom.: 0 AF XY: 0.0000397 AC XY: 5AN XY: 125876
GnomAD4 exome AF: 0.0000339 AC: 49AN: 1447174Hom.: 0 Cov.: 32 AF XY: 0.0000278 AC XY: 20AN XY: 718426
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152276Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74396
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.235C>T (p.R79C) alteration is located in exon 2 (coding exon 2) of the WFIKKN1 gene. This alteration results from a C to T substitution at nucleotide position 235, causing the arginine (R) at amino acid position 79 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at