NM_015335.4(MED13L):c.4456C>T (p.Gln1486Ter) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000578733.1

Allele description [Variation Report for NM_015335.4(MED13L):c.4456C>T (p.Gln1486Ter)]

NM_015335.4(MED13L):c.4456C>T (p.Gln1486Ter)

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.4456C>T (p.Gln1486Ter)
HGVS:
  • NC_000012.12:g.115984255G>A
  • NG_023366.1:g.297932C>T
  • NM_015335.4:c.4456C>T
  • NP_056150.1:p.Gln1486Ter
  • NC_000012.11:g.116422060G>A
Protein change:
Q1486*
Links:
dbSNP: rs1555243580
NCBI 1000 Genomes Browser:
rs1555243580
Molecular consequence:
  • NM_015335.4:c.4456C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000681037GeneDxcriteria provided, single submitter
Likely pathogenic
(Sep 14, 2017)
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, SCV000681037.2

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

Description

The Q1486X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q1486X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, other nonsense and loss of function variants have been reported in the Human Gene Mutation Database in association with MED13L-related disorders (Stenson et al., 2014). Therefore, the Q1486X variant is likely pathogenic.

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

Last Updated: Mar 7, 2021

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