rs142407572
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_139281.3(WDR36):c.1300T>A(p.Leu434Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000435 in 1,610,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_139281.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR36 | NM_139281.3 | c.1300T>A | p.Leu434Met | missense_variant | 12/23 | ENST00000513710.4 | |
WDR36 | XM_047416729.1 | c.1300T>A | p.Leu434Met | missense_variant | 12/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR36 | ENST00000513710.4 | c.1300T>A | p.Leu434Met | missense_variant | 12/23 | 1 | NM_139281.3 | P1 | |
WDR36 | ENST00000505303.5 | n.1436T>A | non_coding_transcript_exon_variant | 12/15 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000661 AC: 1AN: 151288Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249988Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135152
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1458752Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 725668
GnomAD4 genome ? AF: 0.00000661 AC: 1AN: 151288Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73882
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at