NM_015335.5(MED13L):c.34del (p.Ala12fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 30, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001008837.1

Allele description [Variation Report for NM_015335.5(MED13L):c.34del (p.Ala12fs)]

NM_015335.5(MED13L):c.34del (p.Ala12fs)

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.5(MED13L):c.34del (p.Ala12fs)
HGVS:
  • NC_000012.12:g.116277101del
  • NG_023366.1:g.5089del
  • NM_015335.5:c.34delMANE SELECT
  • NP_056150.1:p.Ala12fs
  • NC_000012.11:g.116714906del
  • NM_015335.4:c.34delG
Protein change:
A12fs
Links:
dbSNP: rs1593238375
NCBI 1000 Genomes Browser:
rs1593238375
Molecular consequence:
  • NM_015335.5:c.34del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001168641GeneDxcriteria provided, single submitter
Pathogenic
(Dec 30, 2016)
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, SCV001168641.1

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

Description

The c.34delG variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It was not observed in the large population cohort in the Exome Aggregation Consortium (ExAC). The c.34delG variant causes a frameshift starting with codon Alanine 12, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Ala12ArgfsX35. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of this pathogenic variant is consistent with a diagnosis of an MED13L-related disorder.

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

Last Updated: Mar 7, 2021

Support Center