11-66295133-TGTCGTGGCCCCTGCGC-T
Position:
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The NM_153266.4(TMEM151A):c.897_912del(p.Leu300ProfsTer118) variant causes a frameshift change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Genomes: not found (cov: 33)
Consequence
TMEM151A
NM_153266.4 frameshift
NM_153266.4 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 7.81
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PP5
Variant 11-66295133-TGTCGTGGCCCCTGCGC-T is Pathogenic according to our data. Variant chr11-66295133-TGTCGTGGCCCCTGCGC-T is described in ClinVar as [Pathogenic]. Clinvar id is 2443876.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM151A | NM_153266.4 | c.897_912del | p.Leu300ProfsTer118 | frameshift_variant | 2/2 | ENST00000327259.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM151A | ENST00000327259.5 | c.897_912del | p.Leu300ProfsTer118 | frameshift_variant | 2/2 | 1 | NM_153266.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 genomes
Cov.:
33
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Cov.: 33
GnomAD4 genome
Cov.:
33
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Episodic kinesigenic dyskinesia 3 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Feb 15, 2023 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.