6-169613655-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182552.5(WDR27):c.2225G>T(p.Gly742Val) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000014 in 1,428,570 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182552.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDR27 | ENST00000448612.6 | c.2225G>T | p.Gly742Val | missense_variant, splice_region_variant | Exon 22 of 26 | 1 | NM_182552.5 | ENSP00000416289.1 | ||
ENSG00000285733 | ENST00000648086.1 | c.332-11334G>T | intron_variant | Intron 3 of 7 | ENSP00000497979.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1428570Hom.: 0 Cov.: 29 AF XY: 0.00000282 AC XY: 2AN XY: 710406
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2225G>T (p.G742V) alteration is located in exon 22 (coding exon 21) of the WDR27 gene. This alteration results from a G to T substitution at nucleotide position 2225, causing the glycine (G) at amino acid position 742 to be replaced by a valine (V). 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