NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs) AND Microcephaly 9, primary, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 14, 2013
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:: RCV000192978.6

Allele description [Variation Report for NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)]

NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)

Gene:

CEP152:centrosomal protein 152 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)

HGVS:

NC_000015.10:g.48756233_48756234delinsA
NG_027518.2:g.59913_59914delinsT
NM_001194998.2:c.3014_3015delinsTMANE SELECT
NM_014985.4:c.3014_3015delinsT
NP_001181927.1:p.Lys1005fs
NP_055800.2:p.Lys1005fs
NC_000015.9:g.49048430_49048431delinsA
NG_027518.1:g.59913_59914delAAinsT
NG_027518.1:g.59913_59914delinsT

Protein change:

K1005fs

Links:

dbSNP: rs869312853

NCBI 1000 Genomes Browser:

rs869312853

Molecular consequence:

NM_001194998.2:c.3014_3015delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014985.4:c.3014_3015delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Microcephaly 9, primary, autosomal recessive
Identifiers:: MONDO: MONDO:0013923; MedGen: C3553886; Orphanet: 2512; OMIM: 614852

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000246983	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Oct 14, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000246983

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Oct 14, 2013)

germline

clinical testing

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000246983.1

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

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

Last Updated: Apr 9, 2023

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