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NM_018451.5(CENPJ):c.*302del AND Seckel syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000260457.5

Allele description [Variation Report for NM_018451.5(CENPJ):c.*302del]

NM_018451.5(CENPJ):c.*302del

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.*302del
HGVS:
  • NC_000013.11:g.24882883del
  • NG_009165.2:g.45073del
  • NM_018451.5:c.*302delMANE SELECT
  • NC_000013.10:g.25457021del
  • NM_018451.4:c.*302delA
  • NR_047594.2:n.4603del
  • NR_047595.2:n.4401del
Links:
dbSNP: rs138938177
NCBI 1000 Genomes Browser:
rs138938177
Molecular consequence:
  • NM_018451.5:c.*302del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_047594.2:n.4603del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047595.2:n.4401del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Seckel syndrome
Identifiers:
MONDO: MONDO:0019342; MedGen: C0265202; Orphanet: 808; OMIM: PS210600

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000383440Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000383440.2

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

Last Updated: Mar 30, 2024