20-63895194-TGCCGCCGCCGCC-TGCCGCCGCC

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

The NM_025219.3(DNAJC5):​c.-122_-120delGCC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000163 in 153,526 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 0.000013 ( 0 hom., cov: 31)
Exomes 𝑓: 0.0052 ( 0 hom. )

Consequence

DNAJC5
NM_025219.3 5_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 2.75
Variant links:
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]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -4 ACMG points.

BS2
High AC in GnomAdExome4 at 23 AD gene.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
DNAJC5NM_025219.3 linkc.-122_-120delGCC 5_prime_UTR_variant Exon 1 of 5 ENST00000360864.9 NP_079495.1 Q9H3Z4-1Q6AHX3
DNAJC5XM_047440509.1 linkc.-1807_-1805delGCC 5_prime_UTR_variant Exon 1 of 5 XP_047296465.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
DNAJC5ENST00000360864 linkc.-122_-120delGCC 5_prime_UTR_variant Exon 1 of 5 1 NM_025219.3 ENSP00000354111.4 Q9H3Z4-1
DNAJC5ENST00000470551.1 linkn.-122_-120delGCC non_coding_transcript_exon_variant Exon 1 of 6 2 ENSP00000434744.1 Q9H3Z4-2
DNAJC5ENST00000470551.1 linkn.-122_-120delGCC 5_prime_UTR_variant Exon 1 of 6 2 ENSP00000434744.1 Q9H3Z4-2
ENSG00000290226ENST00000703636.1 linkn.453+12393_453+12395delGCC intron_variant Intron 4 of 4

Frequencies

GnomAD3 genomes
AF:
0.0000134
AC:
2
AN:
149080
Hom.:
0
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000299
Gnomad OTH
AF:
0.00
GnomAD4 exome
AF:
0.00517
AC:
23
AN:
4446
Hom.:
0
AF XY:
0.00446
AC XY:
14
AN XY:
3140
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00111
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00694
Gnomad4 OTH exome
AF:
0.00685
GnomAD4 genome
AF:
0.0000134
AC:
2
AN:
149080
Hom.:
0
Cov.:
31
AF XY:
0.00
AC XY:
0
AN XY:
72630
show subpopulations
Gnomad4 AFR
AF:
0.00
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000299
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs531246320; hg19: chr20-62526547; API