5-111097111-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_139281.3(WDR36):c.223G>A(p.Ala75Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000391 in 1,613,264 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A75V) has been classified as Uncertain significance.
Frequency
Consequence
NM_139281.3 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 |
---|---|---|---|---|---|---|---|
WDR36 | NM_139281.3 | c.223G>A | p.Ala75Thr | missense_variant | 3/23 | ENST00000513710.4 | |
WDR36 | XM_047416729.1 | c.223G>A | p.Ala75Thr | missense_variant | 3/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR36 | ENST00000513710.4 | c.223G>A | p.Ala75Thr | missense_variant | 3/23 | 1 | NM_139281.3 | P1 | |
WDR36 | ENST00000504122.2 | n.105G>A | non_coding_transcript_exon_variant | 1/5 | 4 | ||||
WDR36 | ENST00000505303.5 | n.359G>A | non_coding_transcript_exon_variant | 3/15 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000243 AC: 37AN: 152026Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251278Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135792
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461238Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 8AN XY: 726952
GnomAD4 genome ? AF: 0.000243 AC: 37AN: 152026Hom.: 0 Cov.: 32 AF XY: 0.000296 AC XY: 22AN XY: 74252
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 23, 2023 | The c.391G>A (p.A131T) alteration is located in exon 3 (coding exon 3) of the WDR36 gene. This alteration results from a G to A substitution at nucleotide position 391, causing the alanine (A) at amino acid position 131 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at