rs587778047
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP7
The NM_001135608.3(ARHGAP26):c.1245delTinsGTGGGG(p.Val416fs) variant causes a frameshift, synonymous 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 not provided (no stars). Synonymous variant affecting the same amino acid position (i.e. G415G) has been classified as Benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001135608.3 frameshift, synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARHGAP26 | NM_001135608.3 | c.1245delTinsGTGGGG | p.Val416fs | frameshift_variant, synonymous_variant | 14/23 | ENST00000645722.2 | NP_001129080.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARHGAP26 | ENST00000645722.2 | c.1245delTinsGTGGGG | p.Val416fs | frameshift_variant, synonymous_variant | 14/23 | NM_001135608.3 | ENSP00000495131.1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 48
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Other:1
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at