U.S. flag

An official website of the United States government

NC_000020.10:g.(?_61978090)_(62562921_?)del AND Neuronal ceroid lipofuscinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 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:
RCV004579398.2

Allele description [Variation Report for NC_000020.10:g.(?_61978090)_(62562921_?)del]

NC_000020.10:g.(?_61978090)_(62562921_?)del

Genes:
  • ARFRP1:ARF related protein 1 [Gene - OMIM - HGNC]
  • DNAJC5:DnaJ heat shock protein family (Hsp40) member C5 [Gene - OMIM - HGNC]
  • LIME1:Lck interacting transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • SLC2A4RG:SLC2A4 regulator [Gene - OMIM - HGNC]
  • TNFRSF6B:TNF receptor superfamily member 6b [Gene - OMIM - HGNC]
  • TPD52L2:TPD52 like 2 [Gene - OMIM - HGNC]
  • ABHD16B:abhydrolase domain containing 16B [Gene - OMIM - HGNC]
  • CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
  • EEF1A2:eukaryotic translation elongation factor 1 alpha 2 [Gene - OMIM - HGNC]
  • FNDC11:fibronectin type III domain containing 11 [Gene - HGNC]
  • GMEB2:glucocorticoid modulatory element binding protein 2 [Gene - OMIM - HGNC]
  • HELZ2:helicase with zinc finger 2 [Gene - OMIM - HGNC]
  • PPDPF:pancreatic progenitor cell differentiation and proliferation factor [Gene - HGNC]
  • KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
  • PTK6:protein tyrosine kinase 6 [Gene - OMIM - HGNC]
  • RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]
  • SRMS:src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites [Gene - OMIM - HGNC]
  • STMN3:stathmin 3 [Gene - OMIM - HGNC]
  • ZGPAT:zinc finger CCCH-type and G-patch domain containing [Gene - OMIM - HGNC]
  • ZBTB46:zinc finger and BTB domain containing 46 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q13.33
Genomic location:
Chr20: 61978090 - 62562921 (on Assembly GRCh37)
Preferred name:
NC_000020.10:g.(?_61978090)_(62562921_?)del
HGVS:
NC_000020.10:g.(?_61978090)_(62562921_?)del

Condition(s)

Name:
Neuronal ceroid lipofuscinosis
Synonyms:
Ceroid storage disease
Identifiers:
MONDO: MONDO:0016295; MedGen: C0027877; Orphanet: 79263; OMIM: PS256730

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005068151Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 6, 2023) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005068151.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the DNAJC5 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DNAJC5 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with DNAJC5-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024