rs1191778
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001006657.2(WDR35):c.2948A>T(p.Glu983Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E983G) has been classified as Benign.
Frequency
Consequence
NM_001006657.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR35 | NM_001006657.2 | c.2948A>T | p.Glu983Val | missense_variant | 25/28 | ENST00000345530.8 | |
WDR35 | NM_020779.4 | c.2915A>T | p.Glu972Val | missense_variant | 24/27 | ENST00000281405.9 | |
WDR35 | XM_011533007.3 | c.1643A>T | p.Glu548Val | missense_variant | 14/17 | ||
WDR35 | XR_426989.4 | n.2905A>T | non_coding_transcript_exon_variant | 24/25 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR35 | ENST00000345530.8 | c.2948A>T | p.Glu983Val | missense_variant | 25/28 | 1 | NM_001006657.2 | A1 | |
WDR35 | ENST00000281405.9 | c.2915A>T | p.Glu972Val | missense_variant | 24/27 | 1 | NM_020779.4 | P3 | |
WDR35 | ENST00000414212.5 | c.*230A>T | 3_prime_UTR_variant, NMD_transcript_variant | 25/28 | 5 | ||||
WDR35 | ENST00000445063.5 | c.*1363A>T | 3_prime_UTR_variant, NMD_transcript_variant | 16/18 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 47
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.