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NM_006260.5(DNAJC3):c.729-1G>A AND Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 11, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004555721.2

Allele description [Variation Report for NM_006260.5(DNAJC3):c.729-1G>A]

NM_006260.5(DNAJC3):c.729-1G>A

Gene:
DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q32.1
Genomic location:
Preferred name:
NM_006260.5(DNAJC3):c.729-1G>A
HGVS:
  • NC_000013.11:g.95760678G>A
  • NG_041830.1:g.88540G>A
  • NM_006260.5:c.729-1G>AMANE SELECT
  • NC_000013.10:g.96412932G>A
Molecular consequence:
  • NM_006260.5:c.729-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Synonyms:
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Identifiers:
MONDO: MONDO:0014523; MedGen: C4015436; Orphanet: 445062; OMIM: 616192

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005044674MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Uncertain significance
(Sep 11, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005044674.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PVS1_MOD,PM2_SUP,PM3_SUP; Compound Heterozygote

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024