rs9267649
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000850553.1(NEU1):c.*2668T>C variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.878 in 152,110 control chromosomes in the GnomAD database, including 58,882 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000850553.1 downstream_gene
Scores
Clinical Significance
Conservation
Publications
- sialidosisInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
- sialidosis type 2Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: G2P, Genomics England PanelApp, Labcorp Genetics (formerly Invitae)
- congenital sialidosis type 2Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
- juvenile sialidosis type 2Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
- sialidosis type 1Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NEU1 | ENST00000850553.1 | c.*2668T>C | downstream_gene_variant | ENSP00000520846.1 |
Frequencies
GnomAD3 genomes AF: 0.877 AC: 133360AN: 151992Hom.: 58818 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.878 AC: 133484AN: 152110Hom.: 58882 Cov.: 31 AF XY: 0.878 AC XY: 65264AN XY: 74366 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at