NM_000117.3(EMD):c.46_82+6del AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jul 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000497779.1

Allele description [Variation Report for NM_000117.3(EMD):c.46_82+6del]

NM_000117.3(EMD):c.46_82+6del

Gene:
EMD:emerin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000117.3(EMD):c.46_82+6del
HGVS:
  • NC_000023.11:g.154379530_154379572del
  • NG_008677.1:g.10095_10137del
  • NG_011506.1:g.75_117del
  • NG_011506.2:g.67_109del
  • NM_000117.3:c.46_82+6delMANE SELECT
  • LRG_1340:g.67_109del
  • LRG_745:g.10095_10137del
  • NC_000023.10:g.153607890_153607932del
  • NM_000117.2:c.46_82+6del43
  • p.Leu16Aspfs*37
Links:
dbSNP: rs1557182198
NCBI 1000 Genomes Browser:
rs1557182198
Molecular consequence:
  • NM_000117.3:c.46_82+6del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000590857Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Childrencriteria provided, single submitter
Likely pathogenic
(Jul 14, 2016)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalno4not providednot provided4not providedclinical testing
not providedmaternalyes1not providednot provided1not 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 Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children, SCV000590857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
4not provided1not providednot providedclinical testing PubMed (1)
5not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided
2maternalno1not providednot provided1not providednot providednot provided
3maternalno1not providednot provided1not providednot providednot provided
4maternalno1not providednot provided1not providednot providednot provided
5maternalno1not providednot provided1not providednot providednot provided

Last Updated: Jan 25, 2021

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