5-111092339-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_ModerateBP6_Very_StrongBS2
The ENST00000505303.5(WDR36):n.19G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000519 in 1,614,224 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
ENST00000505303.5 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR36 | ENST00000505303.5 | n.19G>A | non_coding_transcript_exon_variant | Exon 1 of 15 | 5 | |||||
WDR36 | ENST00000513710.4 | c.-118G>A | upstream_gene_variant | 1 | NM_139281.3 | ENSP00000424628.3 | ||||
WDR36 | ENST00000515784.1 | n.-8G>A | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00233 AC: 354AN: 152238Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000637 AC: 160AN: 251316Hom.: 1 AF XY: 0.000412 AC XY: 56AN XY: 135892
GnomAD4 exome AF: 0.000324 AC: 474AN: 1461868Hom.: 4 Cov.: 31 AF XY: 0.000276 AC XY: 201AN XY: 727234
GnomAD4 genome AF: 0.00238 AC: 363AN: 152356Hom.: 1 Cov.: 33 AF XY: 0.00238 AC XY: 177AN XY: 74506
ClinVar
Submissions by phenotype
not provided Benign:2
In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at