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NM_018249.6(CDK5RAP2):c.5157G>A (p.Trp1719Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 1, 2020
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:
RCV001311020.22

Allele description [Variation Report for NM_018249.6(CDK5RAP2):c.5157G>A (p.Trp1719Ter)]

NM_018249.6(CDK5RAP2):c.5157G>A (p.Trp1719Ter)

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.5157G>A (p.Trp1719Ter)
HGVS:
  • NC_000009.12:g.120402956C>T
  • NG_008999.1:g.182204G>A
  • NM_001011649.3:c.4920G>A
  • NM_001272039.2:c.4467G>A
  • NM_018249.6:c.5157G>AMANE SELECT
  • NP_001011649.1:p.Trp1640Ter
  • NP_001258968.1:p.Trp1489Ter
  • NP_060719.4:p.Trp1719Ter
  • NC_000009.11:g.123165234C>T
  • NR_073554.2:n.5421G>A
  • NR_073555.2:n.5344G>A
  • NR_073556.2:n.5553G>A
  • NR_073557.2:n.5426G>A
  • NR_073558.2:n.5423G>A
Protein change:
W1489*
Links:
dbSNP: rs759189611
NCBI 1000 Genomes Browser:
rs759189611
Molecular consequence:
  • NR_073554.2:n.5421G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073555.2:n.5344G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073556.2:n.5553G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073557.2:n.5426G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073558.2:n.5423G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001011649.3:c.4920G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001272039.2:c.4467G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018249.6:c.5157G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

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
SCV001501039CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely pathogenic
(Oct 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001501039.23

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 20, 2024