rs1057517931
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_201525.4(ADGRG1):c.843_844delinsGC(p.Ser281_Gly282delinsArgArg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. SG281RW) has been classified as Uncertain significance.
Frequency
Consequence
NM_201525.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADGRG1 | NM_201525.4 | c.843_844delinsGC | p.Ser281_Gly282delinsArgArg | missense_variant | 6/14 | ENST00000562631.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRG1 | ENST00000562631.7 | c.843_844delinsGC | p.Ser281_Gly282delinsArgArg | missense_variant | 6/14 | 1 | NM_201525.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Dec 02, 2016 | A variant of uncertain significance has been identified in the ADGRG1 gene. The c.843_844delCGinsGC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.843_844delCGinsGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.843_844delCGinsGC variant is caused by two nucleotide substitutions (c.843C>G and c.844 G>C) on the same allele (in cis), resulting in an in-frame deletion of a Serine and Glycine residue and the insertion of two Arginine residues, denoted p.Ser281_Gly282delinsArgArg. However, the c.843_844delCGinsGC variant alters residues that are not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. - |
Bilateral frontoparietal polymicrogyria;C3810405:Polymicrogyria, bilateral perisylvian, autosomal recessive Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Oct 31, 2018 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at