rs151344604
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001142459.2(ASB10):c.515C>T(p.Ala172Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as not provided (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A172G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001142459.2 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.515C>T | p.Ala172Val | missense_variant | 2/6 | ENST00000420175.3 | |
ASB10 | NM_080871.4 | c.470C>T | p.Ala157Val | missense_variant | 2/6 | ||
ASB10 | NM_001142460.1 | c.515C>T | p.Ala172Val | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.515C>T | p.Ala172Val | missense_variant | 2/6 | 1 | NM_001142459.2 | P4 | |
ASB10 | ENST00000275838.5 | c.515C>T | p.Ala172Val | missense_variant | 2/5 | 1 | |||
ASB10 | ENST00000377867.7 | c.470C>T | p.Ala157Val | missense_variant | 2/6 | 2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1441742Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 715444
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Glaucoma 1, open angle, F Other:1
not provided, no classification provided | literature only | Casey Eye Institute Glaucoma Genetics Lab | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at