NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu) AND Microcephaly 3, primary, autosomal recessive

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 28, 2019
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:: RCV000145506.9

Allele description [Variation Report for NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu)]

NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu)

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.749C>T (p.Pro250Leu)

HGVS:

NC_000009.12:g.120530054G>A
NG_008999.1:g.55106C>T
NM_001011649.3:c.749C>T
NM_001272039.2:c.749C>T
NM_018249.6:c.749C>TMANE SELECT
NP_001011649.1:p.Pro250Leu
NP_001258968.1:p.Pro250Leu
NP_060719.4:p.Pro250Leu
NC_000009.11:g.123292332G>A
NM_018249.4:c.749C>T
NR_073554.2:n.938C>T
NR_073555.2:n.938C>T
NR_073556.2:n.935C>T
NR_073557.2:n.938C>T
NR_073558.2:n.935C>T

Protein change:

P250L

Links:

dbSNP: rs568558844

NCBI 1000 Genomes Browser:

rs568558844

Molecular consequence:

NM_001011649.3:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001272039.2:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018249.6:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_073554.2:n.938C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073555.2:n.938C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073556.2:n.935C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073557.2:n.938C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073558.2:n.935C>T - 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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000192593	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 5, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003831522	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 28, 2019)	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

SCV000192593

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 5, 2014)

germline

clinical testing

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

SCV003831522

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 28, 2019)

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	unknown	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, SCV000192593.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003831522.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

ClinVar

Relating variation to medicine