NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) AND Mental retardation and distinctive facial features with or without cardiac defects

Clinical significance:Pathogenic (Last evaluated: Jun 21, 2016)

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:
RCV001265126.1

Allele description [Variation Report for NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)]

NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)

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.4076G>A (p.Trp1359Ter)
HGVS:
  • NC_000012.12:g.115987147C>T
  • NG_023366.1:g.295040G>A
  • NM_015335.5:c.4076G>AMANE SELECT
  • NP_056150.1:p.Trp1359Ter
  • NC_000012.11:g.116424952C>T
  • NM_015335.4:c.4076G>A
Protein change:
W1359*
Links:
dbSNP: rs1592919048
NCBI 1000 Genomes Browser:
rs1592919048
Molecular consequence:
  • NM_015335.5:c.4076G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001443159GenomeConnect - Simons Searchlightno assertion criteria providedPathogenic
(Jun 21, 2016)
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, SCV001443159.1

#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 2016-06-21 and interpreted as Pathogenic. Variant was initially reported by the University of Washington TIGER Study and was later confirmed by GeneDx. CK3+CK19626957The reporting laboratory might also submit to ClinVar.

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

Last Updated: Oct 2, 2021

Support Center