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NC_000015.10:g.(?_48410990)_(48644769_?)del AND Marfan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 3, 2014
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:
RCV004018317.1

Allele description [Variation Report for NC_000015.10:g.(?_48410990)_(48644769_?)del]

NC_000015.10:g.(?_48410990)_(48644769_?)del

Genes:
  • LOC130057018:ATAC-STARR-seq lymphoblastoid active region 9375 [Gene]
  • LOC130057019:ATAC-STARR-seq lymphoblastoid silent region 6417 [Gene]
  • LOC126862124:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 [Gene]
  • LOC126862125:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48821930-48823129 [Gene]
  • LOC125078076:Sharpr-MPRA regulatory region 3576 [Gene]
  • LOC113939944:Sharpr-MPRA regulatory region 9539 [Gene]
  • FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Chr15: 48410990 - 48644769 (on Assembly GRCh38)
Preferred name:
NC_000015.10:g.(?_48410990)_(48644769_?)del
HGVS:
NC_000015.10:g.(?_48410990)_(48644769_?)del

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
SCV004847505Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 3, 2014) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.

Hung CC, Lin SY, Lee CN, Cheng HY, Lin SP, Chen MR, Chen CP, Chang CH, Lin CY, Yu CC, Chiu HH, Cheng WF, Ho HN, Niu DM, Su YN.

Ann Hum Genet. 2009 Nov;73(Pt 6):559-67. doi: 10.1111/j.1469-1809.2009.00545.x.

PubMed [citation]
PMID:
19839986

The effects of thyroid hormones and starvation on hepatic mitochondrial nucleic acids of rainbow trout (Oncorhynchus mykiss).

Oommen OV, Matty AJ.

Gen Comp Endocrinol. 1991 Sep;83(3):468-72.

PubMed [citation]
PMID:
1936929
See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004847505.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The FBN1 whole gene deletion has been reported in several individuals with clinical features of Marfan syndrome (Colovati 2012, Hilhorst-Hofstee 2011, Hung 2009, Oommen 1991). This variant is predicated to lead to an entire deletion of one copy of the FBN1 gene and haploinsufficiency of the FBN1 gene is a pathogenic mechanism in Marfan syndrome. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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

Last Updated: May 1, 2024