1-66826983-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_024763.5(DNAI4):c.2176G>T(p.Asp726Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000147 in 1,613,956 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 (★).
Frequency
Consequence
NM_024763.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000179 AC: 45AN: 251464Hom.: 0 AF XY: 0.000184 AC XY: 25AN XY: 135906
GnomAD4 exome AF: 0.000148 AC: 217AN: 1461846Hom.: 0 Cov.: 33 AF XY: 0.000139 AC XY: 101AN XY: 727220
GnomAD4 genome AF: 0.000138 AC: 21AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2176G>T (p.D726Y) alteration is located in exon 15 (coding exon 15) of the WDR78 gene. This alteration results from a G to T substitution at nucleotide position 2176, causing the aspartic acid (D) at amino acid position 726 to be replaced by a tyrosine (Y). 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