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NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 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:
RCV002447822.2

Allele description [Variation Report for NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter)]

NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter)

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.8547T>A (p.Tyr2849Ter)
HGVS:
  • NC_000015.10:g.48411059A>T
  • NG_008805.2:g.239730T>A
  • NM_000138.5:c.8547T>AMANE SELECT
  • NM_001406716.1:c.8547T>A
  • NP_000129.3:p.Tyr2849Ter
  • NP_000129.3:p.Tyr2849Ter
  • NP_001393645.1:p.Tyr2849Ter
  • LRG_778t1:c.8547T>A
  • LRG_778:g.239730T>A
  • LRG_778p1:p.Tyr2849Ter
  • NC_000015.9:g.48703256A>T
  • NM_000138.4:c.8547T>A
Protein change:
Y2849*
Molecular consequence:
  • NM_000138.5:c.8547T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406716.1:c.8547T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002678905Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 13, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype.

Gao LG, Zhang L, Song L, Wang H, Chang Q, Wu YB, Hui RT, Zhou XL.

Chin Med J (Engl). 2010 Oct;123(20):2874-8.

PubMed [citation]
PMID:
21034599

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Yang H, Luo M, Fu Y, Cao Y, Yin K, Li W, Meng C, Ma Y, Zhang J, Fan Y, Shu C, Chang Q, Zhou Z.

Sci Rep. 2016 Sep 9;6:33002. doi: 10.1038/srep33002.

PubMed [citation]
PMID:
27611364
PMCID:
PMC5017237

Details of each submission

From Ambry Genetics, SCV002678905.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.Y2849* pathogenic mutation (also known as c.8547T>A), located in coding exon 65 of the FBN1 gene, results from a T to A substitution at nucleotide position 8547. This changes the amino acid from a tyrosine to a stop codon within coding exon 65. This alteration was described in a family with Marfan syndrome, and was absent in one unaffected family member and healthy controls (Gao LG et al. Chin. Med. J., 2010 Oct;123:2874-8). This alteration was also reported in a cohort of patients with aortopathy and suspected Marfan syndrome; however, no clinical details were provided about the mutation carrier (Yang H et al. Sci Rep, 2016 Sep;6:33002). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024