chr17-1730810-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000446363(WDR81):c.-253C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0993 in 1,612,388 control chromosomes in the GnomAD database, including 8,864 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000446363 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0937 AC: 14258AN: 152138Hom.: 803 Cov.: 33
GnomAD3 exomes AF: 0.119 AC: 29305AN: 247274Hom.: 2104 AF XY: 0.118 AC XY: 15828AN XY: 134396
GnomAD4 exome AF: 0.0999 AC: 145871AN: 1460132Hom.: 8059 Cov.: 34 AF XY: 0.101 AC XY: 73659AN XY: 726392
GnomAD4 genome AF: 0.0937 AC: 14259AN: 152256Hom.: 805 Cov.: 33 AF XY: 0.0976 AC XY: 7266AN XY: 74460
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at