rs1345043761
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025219.3(DNAJC5):c.-51_-44delCGGAGCCG variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000137 in 146,304 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000014 ( 0 hom., cov: 32)
Consequence
DNAJC5
NM_025219.3 5_prime_UTR
NM_025219.3 5_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.91
Genes affected
DNAJC5 (HGNC:16235): (DnaJ heat shock protein family (Hsp40) member C5) This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAJC5 | ENST00000360864 | c.-51_-44delCGGAGCCG | 5_prime_UTR_variant | Exon 1 of 5 | 1 | NM_025219.3 | ENSP00000354111.4 | |||
DNAJC5 | ENST00000470551.1 | n.-51_-44delCGGAGCCG | non_coding_transcript_exon_variant | Exon 1 of 6 | 2 | ENSP00000434744.1 | ||||
DNAJC5 | ENST00000470551.1 | n.-51_-44delCGGAGCCG | 5_prime_UTR_variant | Exon 1 of 6 | 2 | ENSP00000434744.1 | ||||
ENSG00000290226 | ENST00000703636.1 | n.453+12464_453+12471delCGGAGCCG | intron_variant | Intron 4 of 4 |
Frequencies
GnomAD3 genomes AF: 0.0000137 AC: 2AN: 146304Hom.: 0 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0000137 AC: 2AN: 146304Hom.: 0 Cov.: 32 AF XY: 0.0000140 AC XY: 1AN XY: 71206
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ClinVar
Not reported inComputational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at