NM_015335.4(MED13L):c.6155A>C (p.Asn2052Thr) AND Mental retardation and distinctive facial features with or without cardiac defects

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000655964.2

Allele description [Variation Report for NM_015335.4(MED13L):c.6155A>C (p.Asn2052Thr)]

NM_015335.4(MED13L):c.6155A>C (p.Asn2052Thr)

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.4(MED13L):c.6155A>C (p.Asn2052Thr)
HGVS:
  • NC_000012.12:g.115969010T>G
  • NG_023366.1:g.313177A>C
  • NM_015335.4:c.6155A>C
  • NP_056150.1:p.Asn2052Thr
  • NC_000012.11:g.116406815T>G
Protein change:
N2052T
Links:
dbSNP: rs766487372
NCBI 1000 Genomes Browser:
rs766487372
Molecular consequence:
  • NM_015335.4:c.6155A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation and distinctive facial features with or without cardiac defects (MRFACD)
Synonyms:
ASADOLLAHI-RAUCH SYNDROME
Identifiers:
MONDO: MONDO:0014773; MedGen: C4225208; Orphanet: 369891; OMIM: 616789

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000586856TIDEX, University of British Columbiacriteria provided, single submitter
Uncertain significancede novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 TIDEX, University of British Columbia, SCV000586856.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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