rs6588809
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001171038.2(ASMT):c.568T>A(p.Trp190Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 11/15 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Benignin ClinVar.
Frequency
Consequence
NM_001171038.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASMT | NM_001171038.2 | c.568T>A | p.Trp190Arg | missense_variant | 6/9 | ENST00000381241.9 | |
ASMT | NM_001171039.1 | c.562+2770T>A | intron_variant | ||||
ASMT | NM_001416525.1 | c.563-441T>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASMT | ENST00000381241.9 | c.568T>A | p.Trp190Arg | missense_variant | 6/9 | 1 | NM_001171038.2 | ||
ASMT | ENST00000381229.9 | c.563-441T>A | intron_variant | 1 | P1 | ||||
ASMT | ENST00000381233.8 | c.562+2770T>A | intron_variant | 1 | |||||
ASMT | ENST00000509780.6 | n.289-3533T>A | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 92688Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 48498
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at