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NM_000138.5(FBN1):c.2855-1G>A AND Marfan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 2, 2012
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:
RCV000035152.5

Allele description [Variation Report for NM_000138.5(FBN1):c.2855-1G>A]

NM_000138.5(FBN1):c.2855-1G>A

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.2855-1G>A
HGVS:
  • NC_000015.10:g.48490079C>T
  • NG_008805.2:g.160710G>A
  • NM_000138.5:c.2855-1G>AMANE SELECT
  • NM_001406716.1:c.2855-1G>A
  • LRG_778t1:c.2855-1G>A
  • LRG_778:g.160710G>A
  • NC_000015.9:g.48782276C>T
  • NM_000138.4:c.2855-1G>A
  • c.2855-1G>A
Links:
dbSNP: rs112202622
NCBI 1000 Genomes Browser:
rs112202622
Molecular consequence:
  • NM_000138.5:c.2855-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406716.1:c.2855-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
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
SCV000058793Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(May 2, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000058793.5

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

Description

The 2855-1G>A variant (FBN1) has not been reported in the literature nor previou sly identified by our laboratory. This variant occurs in the invariant region ( +/- 1,2) of the splice consensus sequence and is predicted to cause altered spli cing leading to an abnormal or absent protein. Heterozygous loss of function of the FBN1 gene is an established disease mechanism in Marfan syndrome. In summar y, this variant meets our criteria to be classified as pathogenic (http://pcpgm. partners.org/LMM).

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

Last Updated: Jun 10, 2023