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NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly) AND Transposition of the great arteries, dextro-looped

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 2003
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:
RCV000002189.4

Allele description [Variation Report for NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly)]

NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly)

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.6068A>G (p.Asp2023Gly)
HGVS:
  • NC_000012.12:g.115969097T>C
  • NG_023366.1:g.313090A>G
  • NM_015335.5:c.6068A>GMANE SELECT
  • NP_056150.1:p.Asp2023Gly
  • NC_000012.11:g.116406902T>C
  • Q71F56:p.Asp2023Gly
Protein change:
D2023G; ASP2023GLY
Links:
UniProtKB: Q71F56#VAR_024026; OMIM: 608771.0003; dbSNP: rs121918333
NCBI 1000 Genomes Browser:
rs121918333
Molecular consequence:
  • NM_015335.5:c.6068A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Transposition of the great arteries, dextro-looped (DTGA)
Identifiers:
MONDO: MONDO:0012128; MedGen: C1837341; Orphanet: 860; OMIM: 608808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022347OMIM
no assertion criteria provided
Uncertain significance
(Dec 9, 2003) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

Muncke N, Jung C, Rüdiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schön K, Rappold G.

Circulation. 2003 Dec 9;108(23):2843-50. Epub 2003 Nov 24.

PubMed [citation]
PMID:
14638541

Details of each submission

From OMIM, SCV000022347.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

This variant, formerly titled TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, has been reclassified as a variant of unknown significance because the variant 'appeared to be disease causing' and no functional studies were performed.

In a patient with dextro-looped transposition of the great arteries (DTGA; see 608808), Muncke et al. (2003) identified a heterozygous c.6068A-G transition in exon 28 of the THRAP2 gene, resulting in an asp2023-to-gly (R2023G) substitution at a conserved residue. The mutation was not found in 400 control chromosomes; functional studies of the variant and studies on patient cells were not performed.

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

Last Updated: Oct 8, 2024