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NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 12, 2021
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:
RCV001391259.2

Allele description [Variation Report for NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)]

NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)

Gene:
CENPJ:centromere protein J [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)
HGVS:
  • NC_000013.11:g.24889374_24889377del
  • NG_009165.2:g.38574_38577del
  • NM_018451.5:c.3243_3246delMANE SELECT
  • NP_060921.3:p.Ser1081fs
  • NC_000013.10:g.25463509_25463512del
  • NC_000013.10:g.25463512_25463515del
  • NM_018451.3:c.3243_3246delTCAG
  • NR_047594.2:n.3410_3413del
Protein change:
S1081fs
Links:
OMIM: 609279.0003; dbSNP: rs199422203
NCBI 1000 Genomes Browser:
rs199422203
Molecular consequence:
  • NM_018451.5:c.3243_3246del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_047594.2:n.3410_3413del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Lissencephaly
Synonyms:
Lissencephaly spectrum disorders
Identifiers:
MONDO: MONDO:0018838; MeSH: D054082; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001593208Genetics Institute, Tel Aviv Sourasky Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 12, 2021) 		inheritedclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetics Institute, Tel Aviv Sourasky Medical Center, SCV001593208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024