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NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) AND Cardiac anomalies - developmental delay - facial dysmorphism syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV000498873.2

Allele description [Variation Report for NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)]

NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)

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.5152_5153del (p.Met1718fs)
HGVS:
  • NC_000012.12:g.115982406AT[1]
  • NG_023366.1:g.299778AT[1]
  • NM_015335.5:c.5152_5153delMANE SELECT
  • NP_056150.1:p.Met1718fs
  • NC_000012.11:g.116420211AT[1]
  • NM_015335.4:c.5152_5153del
Protein change:
M1718fs
Links:
dbSNP: rs1555243059
NCBI 1000 Genomes Browser:
rs1555243059
Molecular consequence:
  • NM_015335.5:c.5152_5153del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
termination codon change [Variation Ontology: 0309]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485012Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
no assertion criteria provided
Pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV000485012.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024