chr15-40768002-C-CCGCCTGGCGCATGCGCATCATGACGAGGCT
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_018163.3(DNAJC17):c.852_853insAGCCTCGTCATGATGCGCATGCGCCAGGCG(p.Ser275_Ala284dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A284A) has been classified as Likely benign.
Frequency
Consequence
NM_018163.3 inframe_insertion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAJC17 | NM_018163.3 | c.852_853insAGCCTCGTCATGATGCGCATGCGCCAGGCG | p.Ser275_Ala284dup | inframe_insertion | 11/11 | ENST00000220496.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAJC17 | ENST00000220496.9 | c.852_853insAGCCTCGTCATGATGCGCATGCGCCAGGCG | p.Ser275_Ala284dup | inframe_insertion | 11/11 | 1 | NM_018163.3 | P1 | |
DNAJC17 | ENST00000558727.1 | n.417_418insAGCCTCGTCATGATGCGCATGCGCCAGGCG | non_coding_transcript_exon_variant | 2/2 | 3 | ||||
DNAJC17 | ENST00000561110.5 | n.399_400insAGCCTCGTCATGATGCGCATGCGCCAGGCG | non_coding_transcript_exon_variant | 5/5 | 3 | ||||
DNAJC17 | ENST00000559238.5 | c.*880_*881insAGCCTCGTCATGATGCGCATGCGCCAGGCG | 3_prime_UTR_variant, NMD_transcript_variant | 12/12 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Sep 28, 2022 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with DNAJC17-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.823_852dup, results in the insertion of 10 amino acid(s) of the DNAJC17 protein (p.Ser275_Ala284dup), but otherwise preserves the integrity of the reading frame. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.