NM_015335.5(MED13L):c.5586del (p.Asn1862fs) AND Cardiac anomalies - developmental delay - facial dysmorphism syndrome - ClinVar

NM_015335.5(MED13L):c.5586del (p.Asn1862fs) AND Cardiac anomalies - developmental delay - facial dysmorphism syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 7, 2024
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:: RCV004555743.2

Allele description [Variation Report for NM_015335.5(MED13L):c.5586del (p.Asn1862fs)]

NM_015335.5(MED13L):c.5586del (p.Asn1862fs)

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.5586del (p.Asn1862fs)

HGVS:

NC_000012.12:g.115975517del
NG_023366.1:g.306670del
NM_015335.5:c.5586delMANE SELECT
NP_056150.1:p.Asn1862fs
NC_000012.11:g.116413322del

Protein change:

N1862fs

Molecular consequence:

NM_015335.5:c.5586del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Cardiac anomalies - developmental delay - facial dysmorphism syndrome (MRFACD)
Identifiers:: MONDO: MONDO:0014773; MedGen: C4225208; Orphanet: 369891; OMIM: 616789

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005044696	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Likely pathogenic (May 7, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005044696

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Likely pathogenic
(May 7, 2024)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005044696.1

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

Description

ACMG Criteria: PVS1,PM2_SUP

#	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		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine