NM_000138.5(FBN1):c.8504dup (p.Leu2836fs) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000615206.1

Allele description [Variation Report for NM_000138.5(FBN1):c.8504dup (p.Leu2836fs)]

NM_000138.5(FBN1):c.8504dup (p.Leu2836fs)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_000138.5(FBN1):c.8504dup (p.Leu2836fs)

HGVS:

NC_000015.10:g.48411103dup
NG_008805.2:g.239687dup
NM_000138.5:c.8504dupMANE SELECT
NP_000129.3:p.Leu2836fs
LRG_778:g.239687dup
NC_000015.9:g.48703300dup
NM_000138.4:c.8504dupC
p.Leu2836ThrfsTer3

Protein change:

L2836fs

Links:

dbSNP: rs1555393516

NCBI 1000 Genomes Browser:

rs1555393516

Molecular consequence:

NM_000138.5:c.8504dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

OMIM Links for GEO Profiles (Select 39287014) (1)
OMIM

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000731229	Centre for Genomic and Experimental Medicine, University of Edinburgh	no assertion criteria provided	Likely pathogenic	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000731229

Centre for Genomic and Experimental Medicine, University of Edinburgh

no assertion criteria provided

Likely pathogenic

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Centre for Genomic and Experimental Medicine, University of Edinburgh, SCV000731229.1

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

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

Last Updated: Nov 5, 2022

ClinVar

Relating variation to medicine