NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) AND not specified

Germline classification:: Benign (3 submissions)
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:: RCV000145488.15

Allele description [Variation Report for NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)]

NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)

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.4618G>C (p.Val1540Leu)

HGVS:

NC_000009.12:g.120408455C>G
NG_008999.1:g.176705G>C
NM_001011649.3:c.4618G>C
NM_001272039.2:c.3928G>C
NM_018249.6:c.4618G>CMANE SELECT
NP_001011649.1:p.Val1540Leu
NP_001258968.1:p.Val1310Leu
NP_060719.4:p.Val1540Leu
NC_000009.11:g.123170733C>G
NM_018249.4:c.4618G>C
NM_018249.5:c.4618G>C
NR_073554.2:n.4884G>C
NR_073555.2:n.4807G>C
NR_073556.2:n.5014G>C
NR_073557.2:n.4887G>C
NR_073558.2:n.4884G>C
Q96SN8:p.Val1540Leu

Protein change:

V1310L

Links:

UniProtKB: Q96SN8#VAR_017444; dbSNP: rs4837768

NCBI 1000 Genomes Browser:

rs4837768

Molecular consequence:

NM_001011649.3:c.4618G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001272039.2:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_018249.6:c.4618G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_073554.2:n.4884G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073555.2:n.4807G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073556.2:n.5014G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073557.2:n.4887G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073558.2:n.4884G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000192573	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Likely benign	germline	clinical testing
SCV000313213	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001953800	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000192573

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Likely benign

germline

clinical testing

SCV000313213

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

SCV001953800

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

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
not provided	germline	yes	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, SCV000192573.1

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

From PreventionGenetics, part of Exact Sciences, SCV000313213.1

#	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 Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001953800.1

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

Last Updated: Sep 29, 2024

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