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NM_025219.3(DNAJC5):c.-11-2A>G AND Ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 19, 2019
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:
RCV004799390.1

Allele description [Variation Report for NM_025219.3(DNAJC5):c.-11-2A>G]

NM_025219.3(DNAJC5):c.-11-2A>G

Gene:
DNAJC5:DnaJ heat shock protein family (Hsp40) member C5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_025219.3(DNAJC5):c.-11-2A>G
HGVS:
  • NC_000020.11:g.63928333A>G
  • NG_029805.2:g.38232A>G
  • NM_025219.3:c.-11-2A>GMANE SELECT
  • LRG_831t1:c.-11-2A>G
  • LRG_831:g.38232A>G
  • NC_000020.10:g.62559686A>G
  • NM_025219.2:c.-11-2A>G
Links:
dbSNP: rs1370715503
NCBI 1000 Genomes Browser:
rs1370715503
Molecular consequence:
  • NM_025219.3:c.-11-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) (CLN4)
Synonyms:
Kufs disease autosomal dominant; Ceroid lipofuscinosis neuronal Parry type; Dominant form of adult neuronal ceroid-lipofuscinosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008083; MedGen: C1834207; Orphanet: 228343; Orphanet: 79262; OMIM: 162350

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432858New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Dec 19, 2019) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001432858.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Jan 4, 2025