NM_015335.5(MED13L):c.6284dup (p.Ala2096fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 11, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000395678.1

Allele description [Variation Report for NM_015335.5(MED13L):c.6284dup (p.Ala2096fs)]

NM_015335.5(MED13L):c.6284dup (p.Ala2096fs)

Gene:

MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q24.21

Genomic location:

Preferred name:

NM_015335.5(MED13L):c.6284dup (p.Ala2096fs)

HGVS:

NC_000012.12:g.115966185dup
NG_023366.1:g.316002dup
NM_015335.5:c.6284dupMANE SELECT
NP_056150.1:p.Ala2096fs
NC_000012.11:g.116403990dup
NM_015335.4:c.6284dupT

Protein change:

A2096fs

Links:

dbSNP: rs886041624

NCBI 1000 Genomes Browser:

rs886041624

Molecular consequence:

NM_015335.5:c.6284dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000330324	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 11, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330324

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 11, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000330324.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.6284dupT pathogenic variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6284dupT variant causes a frameshift starting with codon Alanine 2096, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ala2096GlyfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6284dupT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.6284dupT as a pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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