20-45789036-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_080614.2(WFDC3):c.106C>A(p.His36Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,612,908 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H36D) has been classified as Likely benign.
Frequency
Consequence
NM_080614.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151934Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249660Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134956
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1460974Hom.: 0 Cov.: 60 AF XY: 0.0000165 AC XY: 12AN XY: 726808
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151934Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74190
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at