NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 20, 2016
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:: RCV000755189.1

Allele description [Variation Report for NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe)]

NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe)

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.6866G>T (p.Cys2289Phe)

HGVS:

NC_000015.10:g.48430676C>A
NG_008805.2:g.220113G>T
NM_000138.5:c.6866G>TMANE SELECT
NP_000129.3:p.Cys2289Phe
NP_000129.3:p.Cys2289Phe
LRG_778t1:c.6866G>T
LRG_778:g.220113G>T
LRG_778p1:p.Cys2289Phe
NC_000015.9:g.48722873C>A
NM_000138.4:c.6866G>T

Protein change:

C2289F

Links:

dbSNP: rs1566894230

NCBI 1000 Genomes Browser:

rs1566894230

Molecular consequence:

NM_000138.5:c.6866G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital aneurysm of ascending aorta (AAT1)
Synonyms:: AORTIC ANEURYSM, FAMILIAL THORACIC 1; Familial aortic dissection; Annuloaortic ectasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0024559; MedGen: C0345050; Orphanet: 229; OMIM: 607086

Name:: Acute aortic dissection
Identifiers:: MedGen: C0241868

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000883018	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic (Jan 20, 2016)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000883018

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic
(Jan 20, 2016)

unknown

research

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics., Milewicz DM.

Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20.

PubMed [citation]

PMID:: 26621581
PMCID:: PMC4873375

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000883018.1

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

#	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: Dec 2, 2023

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