rs121965025
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000203.5(IDUA):c.1861C>A(p.Arg621=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R621R) has been classified as Likely benign.
Frequency
Consequence
NM_000203.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IDUA | NM_000203.5 | c.1861C>A | p.Arg621= | synonymous_variant | 14/14 | ENST00000514224.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IDUA | ENST00000514224.2 | c.1861C>A | p.Arg621= | synonymous_variant | 14/14 | 2 | NM_000203.5 | P1 | |
IDUA | ENST00000247933.9 | c.1861C>A | p.Arg621= | synonymous_variant | 14/14 | 1 | P1 | ||
IDUA | ENST00000514698.5 | n.1972C>A | non_coding_transcript_exon_variant | 11/11 | 5 | ||||
IDUA | ENST00000652070.1 | n.1917C>A | non_coding_transcript_exon_variant | 13/13 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at