rs6830825
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000203.5(IDUA):c.942G>A(p.Ala314=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000708 in 1,412,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A314A) has been classified as 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 -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IDUA | NM_000203.5 | c.942G>A | p.Ala314= | synonymous_variant | 7/14 | ENST00000514224.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IDUA | ENST00000514224.2 | c.942G>A | p.Ala314= | synonymous_variant | 7/14 | 2 | NM_000203.5 | P1 | |
IDUA | ENST00000247933.9 | c.942G>A | p.Ala314= | synonymous_variant | 7/14 | 1 | P1 | ||
IDUA | ENST00000514698.5 | n.942G>A | non_coding_transcript_exon_variant | 5/11 | 5 | ||||
IDUA | ENST00000652070.1 | n.998G>A | non_coding_transcript_exon_variant | 6/13 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 7.08e-7 AC: 1AN: 1412036Hom.: 0 Cov.: 35 AF XY: 0.00000143 AC XY: 1AN XY: 697580
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Mucopolysaccharidosis type 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 11, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at