DNAJC30

DnaJ heat shock protein family (Hsp40) member C30, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 7:73680918-73683453

Previous symbols: [ "WBSCR18" ]

Links

ENSG00000176410 ∙ NCBI:84277 ∙ OMIM:618202 ∙ HGNC:16410 ∙ Uniprot:Q96LL9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Leber hereditary optic neuropathy (Supportive), mode of inheritance: Mitochondrial
• Leber hereditary optic neuropathy, autosomal recessive (Strong), mode of inheritance: AR
• Leber hereditary optic neuropathy, autosomal recessive (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Leber-like hereditary optic neuropathy, autosomal recessive 1	AR	Ophthalmologic	Individuals have been described with progressive visual sequelae, and medical management (eg, with idebenone) has been described as beneficial	Ophthalmologic	33465056

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAJC30 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC30 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense		2	13		1	16
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	3	13	2	1

Variants in DNAJC30

This is a list of pathogenic ClinVar variants found in the DNAJC30 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-73682814-C-A		Leber-like hereditary optic neuropathy, autosomal recessive 1	Pathogenic (Jan 09, 2024)
7-73682821-G-A			Likely benign (Apr 01, 2023)
7-73682837-C-T		not specified	Uncertain significance (Feb 17, 2022)
7-73682891-C-T		not specified	Uncertain significance (Sep 03, 2024)
7-73682918-T-C		not specified	Uncertain significance (Dec 13, 2022)
7-73682944-C-A			Likely benign (Aug 01, 2024)
7-73682967-C-A		not specified	Uncertain significance (Feb 28, 2024)
7-73682970-G-C		not specified	Uncertain significance (Dec 09, 2024)
7-73683020-G-A		not specified	Uncertain significance (Dec 11, 2023)
7-73683021-G-A			Uncertain significance (Jan 01, 2023)
7-73683026-G-A		not specified	Uncertain significance (Mar 19, 2024)
7-73683027-G-A			Uncertain significance (Oct 01, 2023)
7-73683050-A-G		not specified	Uncertain significance (Feb 10, 2023)
7-73683119-C-G		not specified	Uncertain significance (May 11, 2022)
7-73683122-A-T		Leber-like hereditary optic neuropathy, autosomal recessive 1	Pathogenic (Jan 09, 2024)
7-73683131-T-G		Leber hereditary optic neuropathy, autosomal recessive	Likely pathogenic (Oct 05, 2021)
7-73683155-C-T		Retinal dystrophy	Uncertain significance (Jan 01, 2022)
7-73683181-G-C		not specified	Uncertain significance (Dec 27, 2022)
7-73683191-G-C		Leber-like hereditary optic neuropathy, autosomal recessive 1	Uncertain significance (Jun 10, 2024)
7-73683191-GGGT-G		Leber-like hereditary optic neuropathy, autosomal recessive 1	Pathogenic (Jan 09, 2024)
7-73683192-G-A		Leber-like hereditary optic neuropathy, autosomal recessive 1	Pathogenic (Jan 09, 2024)
7-73683237-C-T		not specified	Uncertain significance (Aug 12, 2024)
7-73683251-G-GA		Optic atrophy	Likely pathogenic (Jan 01, 2022)
7-73683272-T-C		DNAJC30-associated disorder • Leber hereditary optic neuropathy, autosomal recessive • Leber-like hereditary optic neuropathy, autosomal recessive 1 • Optic atrophy • Leber optic atrophy, susceptibility to • Retinal dystrophy	Pathogenic/Likely pathogenic (Jul 10, 2023)
7-73683275-A-G		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC30	protein_coding	protein_coding	ENST00000395176	1	2485

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0231	0.782	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.08	174	138	1.26	0.00000643	1413
Missense in Polyphen		52	49.883	1.0424		518
Synonymous	-2.11	79	58.5	1.35	0.00000280	506
Loss of Function	0.944	3	5.36	0.560	2.32e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0915

Intolerance Scores

• loftool: 0.412
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.96

Haploinsufficiency Scores

• pHI: 0.157
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.499

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dnajc30

Gene ontology

• Biological process: brain development;regulation of mitochondrial ATP synthesis coupled proton transport
• Cellular component: mitochondrial inner membrane
• Molecular function: protein binding