NM_001006657.2:c.3203A>C
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_001006657.2(WDR35):āc.3203A>Cā(p.Tyr1068Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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. Y1068C) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001006657.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDR35 | NM_001006657.2 | c.3203A>C | p.Tyr1068Ser | missense_variant | Exon 27 of 28 | ENST00000345530.8 | NP_001006658.1 | |
WDR35 | NM_020779.4 | c.3170A>C | p.Tyr1057Ser | missense_variant | Exon 26 of 27 | ENST00000281405.9 | NP_065830.2 | |
WDR35 | XM_011533007.3 | c.1898A>C | p.Tyr633Ser | missense_variant | Exon 16 of 17 | XP_011531309.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR35 | ENST00000345530.8 | c.3203A>C | p.Tyr1068Ser | missense_variant | Exon 27 of 28 | 1 | NM_001006657.2 | ENSP00000314444.5 | ||
WDR35 | ENST00000281405.9 | c.3170A>C | p.Tyr1057Ser | missense_variant | Exon 26 of 27 | 1 | NM_020779.4 | ENSP00000281405.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251262Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135872
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461844Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727222
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at