NM_015335.4(MED13L):c.4956-10C>G AND Transposition of the great arteries, dextro-looped 1

Clinical significance:Likely benign (Last evaluated: May 16, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001484160.1

Allele description [Variation Report for NM_015335.4(MED13L):c.4956-10C>G]

NM_015335.4(MED13L):c.4956-10C>G

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.4956-10C>G
HGVS:
  • NC_000012.12:g.115982613G>C
  • NG_023366.1:g.299574C>G
  • NM_015335.4:c.4956-10C>G
  • NC_000012.11:g.116420418G>C
Links:
dbSNP: rs1060504701
NCBI 1000 Genomes Browser:
rs1060504701
Molecular consequence:
  • NM_015335.4:c.4956-10C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Transposition of the great arteries, dextro-looped 1 (DTGA)
Identifiers:
MONDO: MONDO:0012128; MedGen: C1837341; Orphanet: 860; OMIM: 608808

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001688572Invitaecriteria provided, single submitter
Likely benign
(May 16, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001688572.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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