NM_015335.4(MED13L):c.4060C>T (p.Gln1354Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000760698.1

Allele description [Variation Report for NM_015335.4(MED13L):c.4060C>T (p.Gln1354Ter)]

NM_015335.4(MED13L):c.4060C>T (p.Gln1354Ter)

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.4060C>T (p.Gln1354Ter)
HGVS:
  • NC_000012.12:g.115987163G>A
  • NG_023366.1:g.295024C>T
  • NM_015335.4:c.4060C>T
  • NP_056150.1:p.Gln1354Ter
  • NC_000012.11:g.116424968G>A
Protein change:
Q1354*
Links:
dbSNP: rs1565995054
NCBI 1000 Genomes Browser:
rs1565995054
Molecular consequence:
  • NM_015335.4:c.4060C>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
SCV000890590GeneDxcriteria provided, single submitter
Pathogenic
(Aug 23, 2018)
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, SCV000890590.1

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

Description

The Q1354X variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1354X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q1354X as a pathogenic variant.

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

Last Updated: Mar 7, 2021

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