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NM_000138.4(FBN1):c.(?_4473)_(8280_?)del AND Marfan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 7, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000150692.4

Allele description [Variation Report for NM_000138.4(FBN1):c.(?_4473)_(8280_?)del]

NM_000138.4(FBN1):c.(?_4473)_(8280_?)del

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.(?_4473)_(8280_?)del
HGVS:
  • NC_000015.10:g.(?_48411326)_(48468521_?)del
  • NM_000138.4:c.(?_4473)_(8280_?)del
  • LRG_778t1:c.(?_4473)_(8280_?)del
  • NC_000015.9:g.(?_48703523)_(48760718_?)del
  • p.?
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000198051Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Sep 7, 2011) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro RV, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ.

Hum Mutat. 2011 Sep;32(9):1053-62. doi: 10.1002/humu.21525. Epub 2011 Jul 20.

PubMed [citation]
PMID:
21542060

Multi-exon deletions of the FBN1 gene in Marfan syndrome.

Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U.

BMC Med Genet. 2001;2:11. Epub 2001 Oct 24.

PubMed [citation]
PMID:
11710961
PMCID:
PMC59835
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000198051.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

The deletion of exons 36-65 has not been reported in the literature nor previous ly identified in our laboratory. However, other large deletions have been ident ified in individuals with Marfan syndrome (Human Gene Mutation Database (HGMD?), Baetens 2011, Matyas 2007, Liu 2001) demonstrating that haploinsufficency is a pathogenic mechanism in this disease. Because of this, it is highly likely that this variant is pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2022