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NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 2022
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:
RCV002512570.2

Allele description [Variation Report for NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln)]

NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln)

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.5359A>C (p.Lys1787Gln)
HGVS:
  • NC_000009.12:g.120400834T>G
  • NG_008999.1:g.184326A>C
  • NM_001011649.3:c.5122A>C
  • NM_001272039.2:c.4669A>C
  • NM_018249.6:c.5359A>CMANE SELECT
  • NP_001011649.1:p.Lys1708Gln
  • NP_001258968.1:p.Lys1557Gln
  • NP_060719.4:p.Lys1787Gln
  • NC_000009.11:g.123163112T>G
  • NM_018249.4:c.5359A>C
  • NR_073554.2:n.5623A>C
  • NR_073555.2:n.5546A>C
  • NR_073556.2:n.5755A>C
  • NR_073557.2:n.5628A>C
  • NR_073558.2:n.5625A>C
Protein change:
K1557Q
Links:
dbSNP: rs587783395
NCBI 1000 Genomes Browser:
rs587783395
Molecular consequence:
  • NM_001011649.3:c.5122A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001272039.2:c.4669A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018249.6:c.5359A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073554.2:n.5623A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073555.2:n.5546A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073556.2:n.5755A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073557.2:n.5628A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073558.2:n.5625A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003760883Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 16, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003760883.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.5359A>C (p.K1787Q) alteration is located in exon 35 (coding exon 35) of the CDK5RAP2 gene. This alteration results from a A to C substitution at nucleotide position 5359, causing the lysine (K) at amino acid position 1787 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024