NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu) AND Mental retardation and distinctive facial features with or without cardiac defects

Clinical significance:Uncertain significance (Last evaluated: Dec 12, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001253671.1

Allele description [Variation Report for NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)]

NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)
HGVS:
  • NC_000012.12:g.115966195G>C
  • NG_023366.1:g.315992C>G
  • NM_015335.5:c.6274C>GMANE SELECT
  • NP_056150.1:p.Gln2092Glu
  • NC_000012.11:g.116404000G>C
  • NM_015335.4:c.6274C>G
Protein change:
Q2092E
Links:
Molecular consequence:
  • NM_015335.5:c.6274C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Mental retardation and distinctive facial features with or without cardiac defects (MRFACD)
Synonyms:
ASADOLLAHI-RAUCH SYNDROME
Identifiers:
MONDO: MONDO:0014773; MedGen: C4225208; Orphanet: 369891; OMIM: 616789

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001429510Institute of Human Genetics, University of Leipzig Medical Centercriteria provided, single submitter
Uncertain significance
(Dec 12, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001429510.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 25, 2021

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