U.S. flag

An official website of the United States government

NM_015335.5(MED13L):c.539G>C (p.Ser180Thr) AND Cardiac anomalies - developmental delay - facial dysmorphism syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 30, 2023
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:
RCV003887835.1

Allele description [Variation Report for NM_015335.5(MED13L):c.539G>C (p.Ser180Thr)]

NM_015335.5(MED13L):c.539G>C (p.Ser180Thr)

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.5(MED13L):c.539G>C (p.Ser180Thr)
HGVS:
  • NC_000012.12:g.116022542C>G
  • NG_023366.1:g.259645G>C
  • NM_015335.5:c.539G>CMANE SELECT
  • NP_056150.1:p.Ser180Thr
  • NC_000012.11:g.116460347C>G
Protein change:
S180T
Molecular consequence:
  • NM_015335.5:c.539G>C - missense variant - [Sequence Ontology: SO:0001583]

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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004704522Human Genetics Bochum, Ruhr University Bochum
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 30, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Human Genetics Bochum, Ruhr University Bochum, SCV004704522.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG criteria used to clasify this variant: PP3_MOD, PM2_SUP

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

Last Updated: Mar 10, 2024