chr17-745591-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PP3_StrongPP5_Moderate
The NM_015721.3(GEMIN4):āc.2452T>Cā(p.Trp818Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,459,034 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (ā ).
Frequency
Consequence
NM_015721.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 243694Hom.: 0 AF XY: 0.0000226 AC XY: 3AN XY: 132672
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459034Hom.: 0 Cov.: 51 AF XY: 0.00000689 AC XY: 5AN XY: 725642
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Pathogenic:2
This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. -
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Developmental cataract;C0557874:Global developmental delay;C4551563:Microcephaly;CN228291:Severe dystonia Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at