1-197143682-GCTC-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2_SupportingPM4_Supporting
The NM_018136(ASPM):c.567_569del(p.Arg189del) variant causes a inframe deletion change. The variant allele was found at a frequency of 0.00000658 in 152084 control chromosomes in the gnomAD Genomes 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: 0.0000040 ( 0 hom. )
Consequence
ASPM
NM_018136 inframe_deletion
NM_018136 inframe_deletion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 5.82
Links
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
?
Very rare variant; Number of alleles below threshold, gnomad allele frequency = 0.00000658 (1/152084) while in subpopulation NFE AF= 0.0000147 (1/67996). AF 95% confidence interval is 0. There are 0 homozygotes in gnomad. There are 0 alleles in male gnomad subpopulation. Median coverage is 33. This position pass quality control queck.
PM4
?
Nonframeshift variant in NON repetitive region in NM_018136. Strenght limited to Supporting due to length of the change: 1aa.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASPM | NM_018136.5 | c.567_569del | p.Arg189del | inframe_deletion | 3/28 | ENST00000367409.9 | |
ASPM | NM_001206846.2 | c.567_569del | p.Arg189del | inframe_deletion | 3/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASPM | ENST00000367409.9 | c.567_569del | p.Arg189del | inframe_deletion | 3/28 | 1 | NM_018136.5 | P1 |
Frequencies
GnomAD3 genomes AF: 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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Find out detailed SpliceAI scores and Pangolin per-transcript scores at