NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 5, 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:: RCV002310878.9

Allele description [Variation Report for NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)]

NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)

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.4096G>C (p.Glu1366Gln)

HGVS:

NC_000015.10:g.48474369C>G
NG_008805.2:g.176420G>C
NM_000138.5:c.4096G>CMANE SELECT
NP_000129.3:p.Glu1366Gln
NP_000129.3:p.Glu1366Gln
LRG_778t1:c.4096G>C
LRG_778:g.176420G>C
LRG_778p1:p.Glu1366Gln
NC_000015.9:g.48766566C>G
NM_000138.4:c.4096G>C

Protein change:

E1366Q

Links:

dbSNP: rs763449629

NCBI 1000 Genomes Browser:

rs763449629

Molecular consequence:

NM_000138.5:c.4096G>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000319344	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 5, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 14695540, 15221638, 24199744 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000319344

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 5, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

Biggin A, Holman K, Brett M, Bennetts B, Adès L.

Hum Mutat. 2004 Jan;23(1):99.

PubMed [citation]

PMID:: 14695540

Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.

Uyeda T, Takahashi T, Eto S, Sato T, Xu G, Kanezaki R, Toki T, Yonesaka S, Ito E.

J Hum Genet. 2004;49(8):404-407. doi: 10.1007/s10038-004-0168-x. Epub 2004 Jun 23.

PubMed [citation]

PMID:: 15221638

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000319344.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.E1366Q variant (also known as c.4096G>C), located in coding exon 33 of the FBN1 gene, results from a G to C substitution at nucleotide position 4096. The glutamic acid at codon 1366 is replaced by glutamine, an amino acid with some highly similar properties, and is located in the cb EGF-like #19 domain. An alteration affecting the same amino acid (p.E1366K, c.4096G>A) has been previously reported in association with Marfan syndrome related features (Biggin A et al. Hum Mut 2004;23:99-106). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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