NM_000138.4(FBN1):c.3082+8del AND Marfan syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Nov 7, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000029722.2

Allele description [Variation Report for NM_000138.4(FBN1):c.3082+8del]

NM_000138.4(FBN1):c.3082+8del

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.3082+8del
HGVS:
  • NC_000015.10:g.48489843del
  • NG_008805.2:g.160946del
  • NM_000138.4:c.3082+8del
  • LRG_778t1:c.3082+8del
  • LRG_778:g.160946del
  • NC_000015.9:g.48782040del
  • NC_000015.9:g.48782040delC
  • NM_000138.4:c.3082+8delG
  • c.3082+8delG
Links:
dbSNP: rs193922196
NCBI 1000 Genomes Browser:
rs193922196
Molecular consequence:
  • NM_000138.4:c.3082+8del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Marfan syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfanoid hypermobility syndrome; Marfan syndrome type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052375Women's Health and Genetics/Laboratory Corporation of America, LabCorpno assertion criteria providedBenign
(Jul 17, 2014)
germlineclinical testing

SCV000786920Center for Medical Genetics Ghent,University of Ghentno assertion criteria providedUncertain significance
(Nov 7, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052375.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Center for Medical Genetics Ghent,University of Ghent, SCV000786920.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2021

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