NM_015335.4(MED13L):c.5588+1G>A AND Mental retardation and distinctive facial features with or without cardiac defects

Clinical significance:Pathogenic (Last evaluated: Jan 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000496142.2

Allele description [Variation Report for NM_015335.4(MED13L):c.5588+1G>A]

NM_015335.4(MED13L):c.5588+1G>A

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.4(MED13L):c.5588+1G>A
HGVS:
  • NC_000012.12:g.115975514C>T
  • NG_023366.1:g.306673G>A
  • NM_015335.4:c.5588+1G>A
  • NC_000012.11:g.116413319C>T
Links:
dbSNP: rs1135401810
NCBI 1000 Genomes Browser:
rs1135401810
Molecular consequence:
  • NM_015335.4:c.5588+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
2

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
SCV000586777Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Pariscriteria provided, single submitter
Pathogenic
(Jan 6, 2017)
de novoclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001443162GenomeConnect - Simons Searchlightno assertion criteria providedLikely pathogenic
(Feb 21, 2017)
inheritedprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not providednot providednot providednot providedclinical testing
not providedinheritedyesnot providednot providednot providednot providednot providedprovider interpretation

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

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, et al.

Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.

PubMed [citation]
PMID:
28708303

Details of each submission

From Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris, SCV000586777.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)

Description

Intellectual disability, moderate; pyramidal syndrome; overweight

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided2not providednot providednot provided

From GenomeConnect - Simons Searchlight, SCV001443162.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-02-21 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-03-02 by GTR ID of laboratory name Hopitaux Universitaires Pitie-Salpetriere Charles Foix . The reporting laboratory might also submit to ClinVar. Identified in multiple siblings and inherited from a parent with germline mosaicism. Additional phenotypic information for other sibling(s) might be available from Simons Searchlight.

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

Last Updated: Sep 25, 2021

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