rs863225296
Variant summary
Our verdict is Pathogenic. Variant got 18 ACMG points: 18P and 0B. PVS1PM2PP5_Very_Strong
The NM_013275.6(ANKRD11):c.7180C>T(p.Gln2394Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★). Synonymous variant affecting the same amino acid position (i.e. Q2394Q) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_013275.6 stop_gained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Pathogenic. Variant got 18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD11 | NM_013275.6 | c.7180C>T | p.Gln2394Ter | stop_gained | 9/13 | ENST00000301030.10 | |
ANKRD11 | NM_001256182.2 | c.7180C>T | p.Gln2394Ter | stop_gained | 10/14 | ||
ANKRD11 | NM_001256183.2 | c.7180C>T | p.Gln2394Ter | stop_gained | 9/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD11 | ENST00000301030.10 | c.7180C>T | p.Gln2394Ter | stop_gained | 9/13 | 5 | NM_013275.6 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
KBG syndrome Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | DASA | Jan 05, 2022 | The variant creates a premature translational stop signal c.7180C>T;p.(Gln2394*) in ANKRD11 gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs863225296, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic. - |
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at