21-42850119-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_018669.6(WDR4):c.1169G>A(p.Arg390Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.183 in 1,613,918 control chromosomes in the GnomAD database, including 30,380 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_018669.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDR4 | NM_018669.6 | c.1169G>A | p.Arg390Gln | missense_variant | 11/11 | ENST00000398208.3 | NP_061139.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR4 | ENST00000398208.3 | c.1169G>A | p.Arg390Gln | missense_variant | 11/11 | 1 | NM_018669.6 | ENSP00000381266.2 | ||
WDR4 | ENST00000330317.6 | c.1169G>A | p.Arg390Gln | missense_variant | 11/12 | 1 | ENSP00000328671.2 | |||
WDR4 | ENST00000476326.5 | n.1084G>A | non_coding_transcript_exon_variant | 11/11 | 1 | |||||
WDR4 | ENST00000492742.5 | n.1312G>A | non_coding_transcript_exon_variant | 11/11 | 2 |
Frequencies
GnomAD3 genomes AF: 0.240 AC: 36517AN: 152138Hom.: 5536 Cov.: 33
GnomAD3 exomes AF: 0.181 AC: 45447AN: 251140Hom.: 5000 AF XY: 0.181 AC XY: 24548AN XY: 135782
GnomAD4 exome AF: 0.177 AC: 258389AN: 1461662Hom.: 24842 Cov.: 32 AF XY: 0.178 AC XY: 129194AN XY: 727134
GnomAD4 genome AF: 0.240 AC: 36547AN: 152256Hom.: 5538 Cov.: 33 AF XY: 0.234 AC XY: 17439AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 05, 2021 | - - |
Microcephaly, growth deficiency, seizures, and brain malformations Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Dec 05, 2021 | - - |
Galloway-Mowat syndrome 6 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Dec 05, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at