U.S. flag

An official website of the United States government

NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) AND Microcephaly 3, primary, autosomal recessive

Germline classification:
Benign (4 submissions)
Last evaluated:
Jul 14, 2021
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:
RCV000020847.8

Allele description [Variation Report for NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)]

NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)

Gene:
CDK5RAP2:CDK5 regulatory subunit associated protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.2
Genomic location:
Preferred name:
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)
HGVS:
  • NC_000009.12:g.120528758C>G
  • NG_008999.1:g.56402G>C
  • NM_001011649.3:c.865G>C
  • NM_001272039.2:c.865G>C
  • NM_018249.6:c.865G>CMANE SELECT
  • NP_001011649.1:p.Glu289Gln
  • NP_001258968.1:p.Glu289Gln
  • NP_060719.4:p.Glu289Gln
  • NC_000009.11:g.123291036C>G
  • NM_018249.4:c.865G>C
  • NM_018249.5:c.865G>C
  • NR_073554.2:n.1054G>C
  • NR_073555.2:n.1054G>C
  • NR_073556.2:n.1051G>C
  • NR_073557.2:n.1054G>C
  • NR_073558.2:n.1051G>C
  • Q96SN8:p.Glu289Gln
Protein change:
E289Q
Links:
UniProtKB: Q96SN8#VAR_017443; dbSNP: rs4836822
NCBI 1000 Genomes Browser:
rs4836822
Molecular consequence:
  • NM_001011649.3:c.865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001272039.2:c.865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018249.6:c.865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073554.2:n.1054G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073555.2:n.1054G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073556.2:n.1051G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073557.2:n.1054G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073558.2:n.1051G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Microcephaly 3, primary, autosomal recessive
Identifiers:
MONDO: MONDO:0011488; MedGen: C1858108; Orphanet: 2512; OMIM: 604804

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000041435GeneReviews
no classification provided
not providedunknownliterature only

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

SCV000734633Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Benigngermlineclinical testing

SCV000744366Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)
Benign
(May 31, 2017)
germlineclinical testing

Citation Link,

SCV001775632Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jul 14, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Verloes A, Drunat S, Gressens P, Passemard S.

2009 Sep 1 [updated 2013 Oct 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301772

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 GeneReviews, SCV000041435.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744366.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genome-Nilou Lab, SCV001775632.1

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

Last Updated: May 7, 2024