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NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) AND Marfan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 29, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000143895.2

Allele description [Variation Report for NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)]

NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)

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.8521G>T (p.Glu2841Ter)
HGVS:
  • NC_000015.10:g.48411085C>A
  • NG_008805.2:g.239704G>T
  • NM_000138.5:c.8521G>TMANE SELECT
  • NP_000129.3:p.Glu2841Ter
  • NP_000129.3:p.Glu2841Ter
  • LRG_778t1:c.8521G>T
  • LRG_778:g.239704G>T
  • LRG_778p1:p.Glu2841Ter
  • NC_000015.9:g.48703282C>A
  • NM_000138.4:c.8521G>T
Protein change:
E2841*
Links:
dbSNP: rs587782948
NCBI 1000 Genomes Browser:
rs587782948
Molecular consequence:
  • NM_000138.5:c.8521G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000188764Blueprint Genetics
no assertion criteria provided
Pathogenic
(Jan 29, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.

Ogawa N, Imai Y, Takahashi Y, Nawata K, Hara K, Nishimura H, Kato M, Takeda N, Kohro T, Morita H, Taketani T, Morota T, Yamazaki T, Goto J, Tsuji S, Takamoto S, Nagai R, Hirata Y.

Am J Cardiol. 2011 Dec 15;108(12):1801-7. doi: 10.1016/j.amjcard.2011.07.053. Epub 2011 Sep 10.

PubMed [citation]
PMID:
21907952

Details of each submission

From Blueprint Genetics, SCV000188764.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024