ENST00000375544.7:c.135_155delTGATGATGATGATGATGATGA
Variant summary
Our verdict is Likely benign. The variant received -1 ACMG points: 0P and 1B. BP3
The ENST00000375544.7(ASPN):c.135_155delTGATGATGATGATGATGATGA(p.Asp45_Asp51del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.00000847 in 1,534,634 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000375544.7 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASPN | ENST00000375544.7 | c.135_155delTGATGATGATGATGATGATGA | p.Asp45_Asp51del | disruptive_inframe_deletion | Exon 2 of 8 | 1 | ENSP00000364694.3 | |||
CENPP | ENST00000375587.8 | c.564+94907_564+94927delATCATCATCATCATCATCATC | intron_variant | Intron 5 of 7 | 1 | NM_001012267.3 | ENSP00000364737.3 |
Frequencies
GnomAD3 genomes AF: 0.00000678 AC: 1AN: 147588Hom.: 0 Cov.: 0 show subpopulations
GnomAD4 exome AF: 0.00000865 AC: 12AN: 1387046Hom.: 0 AF XY: 0.00000869 AC XY: 6AN XY: 690652 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00000678 AC: 1AN: 147588Hom.: 0 Cov.: 0 AF XY: 0.0000140 AC XY: 1AN XY: 71680 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at