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NM_001042475.3(CEP85L):c.232+2T>A AND multiple conditions

Germline classification:
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:
RCV001391279.1

Allele description [Variation Report for NM_001042475.3(CEP85L):c.232+2T>A]

NM_001042475.3(CEP85L):c.232+2T>A

Gene:
CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_001042475.3(CEP85L):c.232+2T>A
HGVS:
  • NC_000006.12:g.118632451A>T
  • NG_021248.1:g.82625T>A
  • NM_001042475.3:c.232+2T>AMANE SELECT
  • NM_001178035.2:c.241+2T>A
  • NM_206921.3:c.232+2T>A
  • NC_000006.11:g.118953614A>T
Links:
dbSNP: rs2115322443
NCBI 1000 Genomes Browser:
rs2115322443
Molecular consequence:
  • NM_001042475.3:c.232+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001178035.2:c.241+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_206921.3:c.232+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Lissencephaly
Synonyms:
Lissencephaly spectrum disorders
Identifiers:
MONDO: MONDO:0018838; MeSH: D054082; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339
Name:
Thick corpus callosum
Identifiers:
MedGen: C1835194; Human Phenotype Ontology: HP:0007074

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001593230Genetics Institute, Tel Aviv Sourasky Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 12, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot 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, SCV001593230.1

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

Last Updated: Jun 9, 2024