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NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 2019
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:
RCV000778069.2

Allele description [Variation Report for NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)]

NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)

Gene:
CDK8:cyclin dependent kinase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.13
Genomic location:
Preferred name:
NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)
HGVS:
  • NC_000013.11:g.26337623C>A
  • NM_001260.3:c.185C>AMANE SELECT
  • NM_001318368.2:c.185C>A
  • NM_001346501.2:c.-277C>A
  • NP_001251.1:p.Ser62Ter
  • NP_001305297.1:p.Ser62Ter
  • NC_000013.10:g.26911760C>A
Protein change:
S62*
Links:
dbSNP: rs1565977796
NCBI 1000 Genomes Browser:
rs1565977796
Molecular consequence:
  • NM_001346501.2:c.-277C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001260.3:c.185C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318368.2:c.185C>A - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
protein truncation [Variation Ontology: 0015]

Condition(s)

Name:
Ebstein anomaly
Synonyms:
Ebstein's anomaly; Ebstein's anomaly of the tricuspid valve; Ebstein anomaly of the tricuspid valve
Identifiers:
MONDO: MONDO:0009144; MedGen: C0013481; Orphanet: 1880; OMIM: 224700; Human Phenotype Ontology: HP:0010316
Name:
Heart, malformation of
Identifiers:
MONDO: MONDO:0009327; MeSH: D006330; MedGen: CN130023; OMIM: 140500; OMIM: 234750
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Congenital diaphragmatic hernia
Synonyms:
DIH; Congenital diaphragmatic defect; Unilateral agenesis of diaphragm; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005711; MeSH: D065630; MedGen: C0235833; Orphanet: 2140; OMIM: PS142340; Human Phenotype Ontology: HP:0000776
Name:
Ventriculomegaly
Identifiers:
MedGen: C3278923; Human Phenotype Ontology: HP:0002119
Name:
Stillbirth
Identifiers:
MedGen: C0595939; Human Phenotype Ontology: HP:0003826
Name:
Common atrium
Identifiers:
MedGen: C0392482; Human Phenotype Ontology: HP:0011565

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902504Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 16, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

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 Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS, SCV000902504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)

Description

c.185C>T (p.Ser62Leu) missense variant in CDK8 has been reported among five individuals with developmental disorder. De novo missense variants in CDK8 gene have been recently implicated in syndromic developmental disorder (PMID:30905399). The reported variant is a heterozygous stop gain variant (c.185C>A:p.Ser62*) at the same position.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024