rs1395475624
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Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4_SupportingPP5
The NM_020843.4(SCAPER):c.1859_1861del(p.Glu620del) variant causes a inframe deletion 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 Likely pathogenic (no stars).
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
SCAPER
NM_020843.4 inframe_deletion
NM_020843.4 inframe_deletion
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 7.79
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 4 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PM4
Nonframeshift variant in NON repetitive region in NM_020843.4. Strenght limited to Supporting due to length of the change: 1aa.
PP5
Variant 15-76753812-GCTT-G is Pathogenic according to our data. Variant chr15-76753812-GCTT-G is described in ClinVar as [Likely_pathogenic]. Clinvar id is 427856.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCAPER | NM_020843.4 | c.1859_1861del | p.Glu620del | inframe_deletion | 15/32 | ENST00000563290.6 | NP_065894.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCAPER | ENST00000563290.6 | c.1859_1861del | p.Glu620del | inframe_deletion | 15/32 | 5 | NM_020843.4 | ENSP00000454973 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1460056Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 726276
GnomAD4 exome
Data not reliable, filtered out with message: AC0
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1460056
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726276
Gnomad4 AFR exome
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GnomAD4 genome Cov.: 32
GnomAD4 genome
Cov.:
32
ClinVar
Significance: Pathogenic/Likely pathogenic
Submissions summary: Pathogenic:2
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Intellectual developmental disorder and retinitis pigmentosa; IDDRP Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Nov 20, 2018 | - - |
Intellectual disability, moderate;C4551714:Rod-cone dystrophy Pathogenic:1
Likely pathogenic, no assertion criteria provided | research | Department of Genetics, Fundacion Jimenez Diaz University Hospital | Jun 05, 2017 | - - |
Computational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at