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NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) AND Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2017
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:
RCV000588838.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)]

NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)

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.4621C>T (p.Arg1541Ter)
Other names:
p.R1541X:CGA>TGA
HGVS:
  • NC_000015.10:g.48468064G>A
  • NG_008805.2:g.182725C>T
  • NM_000138.5:c.4621C>TMANE SELECT
  • NP_000129.3:p.Arg1541Ter
  • NP_000129.3:p.Arg1541Ter
  • LRG_778t1:c.4621C>T
  • LRG_778:g.182725C>T
  • LRG_778p1:p.Arg1541Ter
  • NC_000015.9:g.48760261G>A
  • NM_000138.4:c.4621C>T
Protein change:
R1541*
Links:
dbSNP: rs794728228
NCBI 1000 Genomes Browser:
rs794728228
Molecular consequence:
  • NM_000138.5:c.4621C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Identifiers:
MedGen: CN229799

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000695547Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Jan 20, 2017) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular analysis of eight mutations in FBN1.

Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA.

Hum Genet. 1999 Dec;105(6):587-97.

PubMed [citation]
PMID:
10647894

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A.

Arch Intern Med. 2001 Nov 12;161(20):2447-54.

PubMed [citation]
PMID:
11700157
See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Variant summary: The FBN1 c.4621C>T (p.Arg1541X) variant results in a premature termination codon, predicted to cause a truncated or absent FBN1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121346 control chromosomes and has been reported in numerous affected individuals in the literature. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

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

Last Updated: Sep 29, 2024