chr20-63919928-C-G
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Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The XM_047440634.1(LOC124904951):āc.529C>Gā(p.His177Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 5/5 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: š 0.0017 ( 0 hom., cov: 3)
Exomes š: 0.0040 ( 16 hom. )
Failed GnomAD Quality Control
Consequence
LOC124904951
XM_047440634.1 missense
XM_047440634.1 missense
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.988
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]
MIR941-5 (HGNC:50845): (microRNA 941-5) microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.67).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC124904951 | XM_047440634.1 | c.529C>G | p.His177Asp | missense_variant | 1/1 | XP_047296590.1 | ||
DNAJC5 | NM_025219.3 | c.-11-8407C>G | intron_variant | ENST00000360864.9 | NP_079495.1 | |||
MIR941-5 | NR_128719.1 | n.61C>G | non_coding_transcript_exon_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAJC5 | ENST00000360864.9 | c.-11-8407C>G | intron_variant | 1 | NM_025219.3 | ENSP00000354111 | P1 | |||
MIR941-5 | ENST00000621667.1 | n.61C>G | mature_miRNA_variant | 1/1 | ||||||
DNAJC5 | ENST00000470551.1 | c.-11-8407C>G | intron_variant, NMD_transcript_variant | 2 | ENSP00000434744 | |||||
DNAJC5 | ENST00000703637.1 | c.-418C>G | 5_prime_UTR_variant, NMD_transcript_variant | 1/6 | ENSP00000515413 |
Frequencies
GnomAD3 genomes AF: 0.00172 AC: 33AN: 19166Hom.: 0 Cov.: 3
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GnomAD3 exomes AF: 0.000290 AC: 47AN: 161882Hom.: 0 AF XY: 0.000185 AC XY: 17AN XY: 92094
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00403 AC: 931AN: 230804Hom.: 16 Cov.: 0 AF XY: 0.00320 AC XY: 431AN XY: 134794
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GnomAD4 genome AF: 0.00172 AC: 33AN: 19168Hom.: 0 Cov.: 3 AF XY: 0.00216 AC XY: 20AN XY: 9238
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at