rs1554069658
Variant summary
Our verdict is Uncertain significance. The variant received 3 ACMG points: 3P and 0B. PM4PP3
The NM_000046.5(ARSB):c.1582_1596delGTGTGGGGCCCTTGG(p.Val528_Trp532del) variant causes a conservative inframe deletion change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. V528V) has been classified as Likely benign.
Frequency
Consequence
NM_000046.5 conservative_inframe_deletion
Scores
Clinical Significance
Conservation
Publications
- mucopolysaccharidosis type 6Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Genomics England PanelApp, Illumina, Labcorp Genetics (formerly Invitae), G2P, ClinGen
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARSB | NM_000046.5 | c.1582_1596delGTGTGGGGCCCTTGG | p.Val528_Trp532del | conservative_inframe_deletion | Exon 8 of 8 | ENST00000264914.10 | NP_000037.2 | |
ARSB | XM_011543390.2 | c.1582_1596delGTGTGGGGCCCTTGG | p.Val528_Trp532del | conservative_inframe_deletion | Exon 9 of 9 | XP_011541692.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARSB | ENST00000264914.10 | c.1582_1596delGTGTGGGGCCCTTGG | p.Val528_Trp532del | conservative_inframe_deletion | Exon 8 of 8 | 1 | NM_000046.5 | ENSP00000264914.4 | ||
ARSB | ENST00000521011.1 | n.547_561delGTGTGGGGCCCTTGG | non_coding_transcript_exon_variant | Exon 3 of 3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Mucopolysaccharidosis type 6 Uncertain:1
Absent from GnomAD (PM2) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at