NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Apr 20, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000145634.9

Allele description [Variation Report for NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)]

NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)

HGVS:

NC_000015.10:g.48741622G>C
NG_027518.2:g.74525C>G
NM_001194998.1:c.4072C>G
NM_001194998.2:c.4072C>GMANE SELECT
NM_014985.4:c.3904C>G
NP_001181927.1:p.Gln1358Glu
NP_055800.2:p.Gln1302Glu
NC_000015.9:g.49033819G>C
NG_027518.1:g.74525C>G
NM_014985.3:c.3904C>G

Protein change:

Q1302E

Links:

dbSNP: rs149478199

NCBI 1000 Genomes Browser:

rs149478199

Molecular consequence:

NM_001194998.2:c.4072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014985.4:c.3904C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Dbi diazepam binding inhibitor [Mus musculus]
Dbi diazepam binding inhibitor [Mus musculus]
Gene ID:13167

Gene
Gene Links for GEO Profiles (Select 99654458) (1)
Gene
Mus musculus sphingomyelin phosphodiesterase 4 (Smpd4), transcript variant 4, mR...
Mus musculus sphingomyelin phosphodiesterase 4 (Smpd4), transcript variant 4, mRNA
gi|2214414559|ref|NM_001164609.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000192732	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 22, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000860096	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Benign (Apr 20, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000192732

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Sep 22, 2015)

germline

clinical testing

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

SCV000860096

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Benign
(Apr 20, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical 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 Genetic Services Laboratory, University of Chicago, SCV000192732.2

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000860096.1

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

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

Last Updated: Sep 8, 2024

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