rs773107901
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_018136.5(ASPM):c.10369delG(p.Glu3457LysfsTer13) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,612,582 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018136.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASPM | NM_018136.5 | c.10369delG | p.Glu3457LysfsTer13 | frameshift_variant | Exon 28 of 28 | ENST00000367409.9 | NP_060606.3 | |
ASPM | NM_001206846.2 | c.5614delG | p.Glu1872LysfsTer13 | frameshift_variant | Exon 27 of 27 | NP_001193775.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151766Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250508Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135480
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460816Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 726718
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151766Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74066
ClinVar
Submissions by phenotype
not provided Uncertain:1
Frameshift variant predicted to result in protein truncation as the last 21 amino acids are replaced with 12 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 29243349) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at