U.S. flag

An official website of the United States government

NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) AND Primary Microcephaly, Recessive

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000407188.6

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:
Primary Microcephaly, Recessive
Identifiers:
MedGen: CN239428

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
SCV000476957Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000476957.2

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

Last Updated: May 7, 2024