7-69599693-C-CGGCGGT
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_015570(AUTS2):c.41_46dup(p.Arg15_Ser16insTrpArg) variant causes a inframe insertion change. The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 32)
Consequence
AUTS2
NM_015570 inframe_insertion
NM_015570 inframe_insertion
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 6.00
Links
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 1 ACMG points.
PM2
?
Very rare variant; Number of alleles below threshold, Median coverage is 32.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AUTS2 | NM_015570.4 | c.41_46dup | p.Arg15_Ser16insTrpArg | inframe_insertion | 1/19 | ENST00000342771.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AUTS2 | ENST00000342771.10 | c.41_46dup | p.Arg15_Ser16insTrpArg | inframe_insertion | 1/19 | 1 | NM_015570.4 | P4 | |
AUTS2 | ENST00000403018.3 | c.41_46dup | p.Arg15_Ser16insTrpArg | inframe_insertion | 1/5 | 1 | |||
AUTS2 | ENST00000406775.6 | c.41_46dup | p.Arg15_Ser16insTrpArg | inframe_insertion | 1/18 | 1 | |||
AUTS2 | ENST00000644939.1 | c.41_46dup | p.Arg15_Ser16insTrpArg | inframe_insertion | 1/19 | A1 |
Frequencies
GnomAD3 genomesCov.: 32
GnomAD3 genomes
Cov.:
32
ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Jul 22, 2019 | Not observed in large population cohorts (Lek et al., 2016); In-frame insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.