NM_000138.4(FBN1):c.4096G>C (p.Glu1366Gln) AND Thoracic aortic aneurysm and aortic dissection

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 29, 2016
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:: RCV000241769.1

Allele description

NM_000138.4(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_000138.4(FBN1):c.4096G>C (p.Glu1366Gln)

HGVS:

NC_000015.10:g.48474369C>G
NG_008805.2:g.176420G>C
NM_000138.4:c.4096G>C
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

Protein change:

E1366Q

Links:

dbSNP: rs763449629

NCBI 1000 Genomes Browser:

rs763449629

Allele Frequency:

0.00001(G)

Molecular consequence:

NM_000138.4:c.4096G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:: Familial thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:: MedGen: CN118826; 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 Autosomal Dominant and X-Linked criteria (10/2015))	Likely pathogenic (Mar 29, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000319344

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Likely pathogenic
(Mar 29, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000319344.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 6, 2017

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