NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) AND Posterior Predominant Lissencephaly

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001257935.1

Allele description [Variation Report for NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)]

NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)

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.193G>A (p.Asp65Asn)

HGVS:

NC_000006.12:g.118632492C>T
NG_021248.1:g.82584G>A
NM_001042475.3:c.193G>AMANE SELECT
NM_001178035.2:c.202G>A
NM_206921.3:c.193G>A
NP_001035940.1:p.Asp65Asn
NP_001171506.1:p.Asp68Asn
NP_996804.2:p.Asp65Asn
NC_000006.11:g.118953655C>T
NM_001042475.2:c.193G>A

Protein change:

D65N; ASP65ASN

Links:

OMIM: 618865.0002; dbSNP: rs1774229245

NCBI 1000 Genomes Browser:

rs1774229245

Molecular consequence:

NM_001042475.3:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178035.2:c.202G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_206921.3:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Posterior Predominant Lissencephaly
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434744	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434744

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG; University of Washington Center for Mendelian Genomics., Ng CC, Chan CK, Lim KS, Leventer RJ, et al.

Neuron. 2020 Apr 22;106(2):237-245.e8. doi: 10.1016/j.neuron.2020.01.027. Epub 2020 Feb 24.

PubMed [citation]

PMID:: 32097630
PMCID:: PMC7357395

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434744.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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