NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs) AND Cardiac anomalies - developmental delay - facial dysmorphism syndrome - ClinVar

NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs) AND Cardiac anomalies - developmental delay - facial dysmorphism syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001252064.2

Allele description [Variation Report for NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)]

NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

12q24.21

Genomic location:

Preferred name:

NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)

HGVS:

NC_000012.12:g.115991669CA[1]
NG_023366.1:g.290515TG[1]
NM_015335.5:c.3284_3285delMANE SELECT
NP_056150.1:p.Val1095fs
NC_000012.11:g.116429474CA[1]
NM_015335.4:c.3284_3285del

Protein change:

V1095fs

Links:

dbSNP: rs1878068615

NCBI 1000 Genomes Browser:

rs1878068615

Molecular consequence:

NM_015335.5:c.3284_3285del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001427812	Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	no assertion criteria provided	Likely pathogenic (Jan 1, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001427812

Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

no assertion criteria provided

Likely pathogenic
(Jan 1, 2019)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001427812.1

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

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

Last Updated: Jun 23, 2024

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