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NM_004269.4(MED27):c.878C>T (p.Pro293Leu) AND Intellectual disability

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001007812.2

Allele description [Variation Report for NM_004269.4(MED27):c.878C>T (p.Pro293Leu)]

NM_004269.4(MED27):c.878C>T (p.Pro293Leu)

Gene:
MED27:mediator complex subunit 27 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_004269.4(MED27):c.878C>T (p.Pro293Leu)
HGVS:
  • NC_000009.12:g.131860596G>A
  • NM_001253881.2:c.770C>T
  • NM_004269.4:c.878C>TMANE SELECT
  • NP_001240810.1:p.Pro257Leu
  • NP_004260.2:p.Pro293Leu
  • NC_000009.11:g.134735983G>A
  • NM_001253881.1:c.770C>T
Protein change:
P257L
Links:
dbSNP: rs1218659650
NCBI 1000 Genomes Browser:
rs1218659650
Molecular consequence:
  • NM_001253881.2:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004269.4:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167503Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Uncertain significanceinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes41not providednot providedyesresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167503.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providedyesresearchnot provided

Description

Two genes were thought to be involved in this family's phenotype including homozygous COG6 c.726del and homozygous MED27 c.770C>T

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided4not provided1not provided

Last Updated: Sep 30, 2023