rs34922018
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_016544.3(DNAJC27):c.*3789_*3790insG variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 32)
Consequence
DNAJC27
NM_016544.3 3_prime_UTR
NM_016544.3 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.618
Genes affected
DNAJC27 (HGNC:30290): (DnaJ heat shock protein family (Hsp40) member C27) Predicted to enable GTPase activity. Predicted to be involved in intracellular protein transport and positive regulation of MAPK cascade. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAJC27 | NM_016544.3 | c.*3789_*3790insG | 3_prime_UTR_variant | 7/7 | ENST00000264711.7 | ||
DNAJC27 | NM_001198559.1 | c.*3916_*3917insG | 3_prime_UTR_variant | 6/6 | |||
DNAJC27 | XM_047444647.1 | c.*3789_*3790insG | 3_prime_UTR_variant | 7/7 | |||
DNAJC27 | XM_047444648.1 | c.*3789_*3790insG | 3_prime_UTR_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAJC27 | ENST00000264711.7 | c.*3789_*3790insG | 3_prime_UTR_variant | 7/7 | 1 | NM_016544.3 | P1 | ||
DNAJC27 | ENST00000534855.5 | c.*3916_*3917insG | 3_prime_UTR_variant | 6/6 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at