NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) AND Mental retardation and distinctive facial features with or without cardiac defects

Clinical significance:Pathogenic (Last evaluated: Mar 9, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001265258.1

Allele description [Variation Report for NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)]

NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
HGVS:
  • NC_000012.12:g.115970672dup
  • NG_023366.1:g.311516dup
  • NM_015335.5:c.5990dupMANE SELECT
  • NP_056150.1:p.Leu1997fs
  • NC_000012.11:g.116408477dup
  • NM_015335.4:c.5990dupT
Protein change:
L1997fs
Links:
Molecular consequence:
  • NM_015335.5:c.5990dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001443374GenomeConnect - Simons Searchlightno assertion criteria providedPathogenic
(Mar 9, 2018)
de novoprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443374.1

#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 2018-03-09 and interpreted as Pathogenic. Variant was initially reported on 2018-02-21 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.

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

Last Updated: Oct 6, 2021

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