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NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) AND Seckel syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 22, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000470349.1

Allele description

NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)

Genes:
CENPJ:centromere protein J [Gene - OMIM - HGNC]
RNF17:ring finger protein 17 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)
HGVS:
  • NC_000013.11:g.24883255_24883258del
  • NG_009165.2:g.44690_44693del
  • NM_018451.5:c.3936_3939delMANE SELECT
  • NP_060921.3:p.His1313fs
  • NC_000013.10:g.25457393_25457396del
  • NM_018451.4:c.3936_3939delTCAT
  • NR_047594.2:n.4220_4223del
  • NR_047595.2:n.4018_4021del
Protein change:
H1313fs
Links:
dbSNP: rs1060499557
NCBI 1000 Genomes Browser:
rs1060499557
Molecular consequence:
  • NM_018451.5:c.3936_3939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_047594.2:n.4220_4223del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047595.2:n.4018_4021del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
protein truncation [Variation Ontology: 0015]

Condition(s)

Name:
Seckel syndrome 5 (SCKL5)
Identifiers:
MONDO: MONDO:0013443; MedGen: C3151187; Orphanet: 808; OMIM: 613823

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000502998Clinical Genetics laboratory, University of Goettingen
no assertion criteria provided
Pathogenic
(Sep 22, 2016) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Clinical Genetics laboratory, University of Goettingen, SCV000502998.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

was found in homozygous state, inherited from parents, with typical clinical features

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

Last Updated: Jan 1, 2022