rs6741091
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001006657.2(WDR35):c.2529A>T(p.Glu843Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. E843E) has been classified as Benign.
Frequency
Consequence
NM_001006657.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR35 | NM_001006657.2 | c.2529A>T | p.Glu843Asp | missense_variant | 22/28 | ENST00000345530.8 | |
WDR35 | NM_020779.4 | c.2496A>T | p.Glu832Asp | missense_variant | 21/27 | ENST00000281405.9 | |
WDR35 | XM_011533007.3 | c.1224A>T | p.Glu408Asp | missense_variant | 11/17 | ||
WDR35 | XR_426989.4 | n.2586A>T | non_coding_transcript_exon_variant | 21/25 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR35 | ENST00000345530.8 | c.2529A>T | p.Glu843Asp | missense_variant | 22/28 | 1 | NM_001006657.2 | A1 | |
WDR35 | ENST00000281405.9 | c.2496A>T | p.Glu832Asp | missense_variant | 21/27 | 1 | NM_020779.4 | P3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 41
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at