rs730882233
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3PP5
The NM_021807.4(EXOC4):c.1733A>G(p.Gln578Arg) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000687 in 1,455,460 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Likely pathogenic (no stars).
Frequency
Consequence
NM_021807.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EXOC4 | NM_021807.4 | c.1733A>G | p.Gln578Arg | missense_variant, splice_region_variant | 11/18 | ENST00000253861.5 | |
LOC101928861 | NR_120513.1 | n.821+4615T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EXOC4 | ENST00000253861.5 | c.1733A>G | p.Gln578Arg | missense_variant, splice_region_variant | 11/18 | 1 | NM_021807.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000687 AC: 10AN: 1455460Hom.: 0 Cov.: 28 AF XY: 0.00000690 AC XY: 5AN XY: 724542
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Meckel-Gruber syndrome Pathogenic:1
Likely pathogenic, no assertion criteria provided | research | Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre | Dec 01, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at