NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 22, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001008662.1

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)

Identifiers:
MedGen: CN517202

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
SCV001168441GeneDxcriteria provided, single submitter
Pathogenic
(Jan 22, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001168441.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The W1359X nonsense variant in the MED13L gene has been reported previously as a de novo change in association with autism spectrum disorder (Wang et al., 2016; Isossifov et al., 2014). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek., 2016). Therefore the W1359X is a pathogenic variant.

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

Last Updated: Oct 2, 2021

Support Center