9-92474742-C-CTCATCATCA
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BS1_SupportingBS2
The NM_017680.6(ASPN):c.147_155dupTGATGATGA(p.Asp49_Asp51dup) variant causes a disruptive inframe insertion change. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017680.6 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASPN | ENST00000375544.7 | c.147_155dupTGATGATGA | p.Asp49_Asp51dup | disruptive_inframe_insertion | Exon 2 of 8 | 1 | ENSP00000364694.3 | |||
CENPP | ENST00000375587.8 | c.564+94919_564+94927dupATCATCATC | intron_variant | Intron 5 of 7 | 1 | NM_001012267.3 | ENSP00000364737.3 |
Frequencies
GnomAD3 genomes AF: 0.0269 AC: 3965AN: 147550Hom.: 64 Cov.: 0
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0221 AC: 30603AN: 1386552Hom.: 250 Cov.: 0 AF XY: 0.0225 AC XY: 15526AN XY: 690438
GnomAD4 genome AF: 0.0269 AC: 3971AN: 147656Hom.: 63 Cov.: 0 AF XY: 0.0267 AC XY: 1914AN XY: 71780
ClinVar
Submissions by phenotype
not provided Uncertain:1
In-frame duplication of 3 Aspartate residues, which results in an allele with 16 Aspartate residues, or a D16 allele; Significantly over-represented in a study of Han Chinese patients with ankylosing spondylitis (Liu et al., 2010); Reported in 5.8% (43/740) alleles of patients with developmental hip dysplasia in the Han Chinese population, but also seen in 4.4% (39/890) alleles of control samples, which was not a statistically significant difference (Shi et al., 2011); This variant is associated with the following publications: (PMID: 15640800, 21329514, 20144272) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at