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NM_018249.6(CDK5RAP2):c.*264G>A AND not provided

Germline classification:
Benign (1 submission)
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:
RCV004718544.1

Allele description [Variation Report for NM_018249.6(CDK5RAP2):c.*264G>A]

NM_018249.6(CDK5RAP2):c.*264G>A

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.*264G>A
HGVS:
  • NC_000009.12:g.120388972C>T
  • NG_008999.1:g.196188G>A
  • NM_001011649.3:c.*264G>A
  • NM_001272039.2:c.*264G>A
  • NM_018249.6:c.*264G>AMANE SELECT
  • NC_000009.11:g.123151250C>T
  • NM_018249.5:c.*264G>A
  • NR_073554.2:n.6210G>A
  • NR_073555.2:n.6133G>A
  • NR_073556.2:n.6342G>A
  • NR_073557.2:n.6215G>A
  • NR_073558.2:n.6212G>A
Links:
dbSNP: rs181859642
NCBI 1000 Genomes Browser:
rs181859642
Molecular consequence:
  • NM_001011649.3:c.*264G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001272039.2:c.*264G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_018249.6:c.*264G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_073554.2:n.6210G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073555.2:n.6133G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073556.2:n.6342G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073557.2:n.6215G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073558.2:n.6212G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005321583Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided

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 Breakthrough Genomics, Breakthrough Genomics, SCV005321583.1

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

Last Updated: Sep 29, 2024