chr1-197128665-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018136.5(ASPM):āc.2761G>Cā(p.Ala921Pro) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,453,984 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A921S) has been classified as Uncertain significance.
Frequency
Consequence
NM_018136.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASPM | NM_018136.5 | c.2761G>C | p.Ala921Pro | missense_variant, splice_region_variant | 10/28 | ENST00000367409.9 | |
ASPM | NM_001206846.2 | c.2761G>C | p.Ala921Pro | missense_variant, splice_region_variant | 10/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASPM | ENST00000367409.9 | c.2761G>C | p.Ala921Pro | missense_variant, splice_region_variant | 10/28 | 1 | NM_018136.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244224Hom.: 0 AF XY: 0.00000755 AC XY: 1AN XY: 132514
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453984Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 723522
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at