1-197143682-GCTC-G
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Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_018136.5(ASPM):c.567_569del(p.Arg189del) variant causes a inframe deletion change. The variant allele was found at a frequency of 0.00000248 in 1,613,686 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 33)
Exomes 𝑓: 0.0000021 ( 0 hom. )
Consequence
ASPM
NM_018136.5 inframe_deletion
NM_018136.5 inframe_deletion
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Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 5.82
Genes affected
ASPM (HGNC:19048): (assembly factor for spindle microtubules) This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
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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;
PM4
Nonframeshift variant in NON repetitive region in NM_018136.5. Strenght limited to Supporting due to length of the change: 1aa.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| ASPM | NM_018136.5 | c.567_569del | p.Arg189del | inframe_deletion | 3/28 | ENST00000367409.9 | NP_060606.3 | |
| ASPM | NM_001206846.2 | c.567_569del | p.Arg189del | inframe_deletion | 3/27 | NP_001193775.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ASPM | ENST00000367409.9 | c.567_569del | p.Arg189del | inframe_deletion | 3/28 | 1 | NM_018136.5 | ENSP00000356379 | P1 |
Frequencies
GnomAD3 genomes 0.00000658 AC: 1AN: 152084Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250412Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135548
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GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461602Hom.: 0 AF XY: 0.00000275 AC XY: 2AN XY: 727092
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GnomAD4 genome 0.00000658 AC: 1AN: 152084Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74302
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ClinVar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at