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NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu) AND CDK8-kinase module-associated disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 24, 2018
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:
RCV000735245.2

Allele description [Variation Report for NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)]

NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)

Gene:
MED13:mediator complex subunit 13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)
HGVS:
  • NC_000017.11:g.61953035G>A
  • NG_046948.1:g.117277C>T
  • NM_005121.3:c.6047C>TMANE SELECT
  • NP_005112.2:p.Pro2016Leu
  • NC_000017.10:g.60030396G>A
  • NM_005121.2:c.6047C>T
Protein change:
P2016L
Links:
dbSNP: rs1567938478
NCBI 1000 Genomes Browser:
rs1567938478
Molecular consequence:
  • NM_005121.3:c.6047C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CDK8-kinase module-associated disorder
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000863454Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Aug 24, 2018)
de novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot 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 Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV000863454.1

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

Last Updated: Feb 4, 2024