chr12-45730067-C-CG
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_152641.4(ARID2):c.118dupG(p.Val40GlyfsTer26) variant causes a frameshift 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 Pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. V40V) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_152641.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARID2 | NM_152641.4 | c.118dupG | p.Val40GlyfsTer26 | frameshift_variant | Exon 2 of 21 | ENST00000334344.11 | NP_689854.2 | |
ARID2 | NM_001347839.2 | c.118dupG | p.Val40GlyfsTer26 | frameshift_variant | Exon 2 of 20 | NP_001334768.1 | ||
ARID2 | XM_047428489.1 | c.118dupG | p.Val40GlyfsTer26 | frameshift_variant | Exon 2 of 17 | XP_047284445.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
Coffin-Siris syndrome 6 Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.