NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del) AND Mental retardation and distinctive facial features with or without cardiac defects

Clinical significance:Uncertain significance (Last evaluated: Jan 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001262286.1

Allele description [Variation Report for NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)]

NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)
HGVS:
  • NC_000012.12:g.115975272_115975277del
  • NG_023366.1:g.306910_306915del
  • NM_015335.5:c.5625_5630delMANE SELECT
  • NP_056150.1:p.Leu1876_Gln1877del
  • NC_000012.11:g.116413077_116413082del
  • NM_015335.4:c.5625_5630del
Links:
Molecular consequence:
  • NM_015335.5:c.5625_5630del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001440098Institute of Human Genetics, University of Leipzig Medical Centercriteria provided, single submitter
Uncertain significance
(Jan 1, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot 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, SCV001440098.1

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

Last Updated: Sep 25, 2021

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