NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly) AND Marfan syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 6, 2019
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:: RCV000984063.1

Allele description [Variation Report for NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)]

NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)

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.5416T>G (p.Cys1806Gly)

HGVS:

NC_000015.10:g.48456643A>C
NG_008805.2:g.194146T>G
NM_000138.5:c.5416T>GMANE SELECT
NP_000129.3:p.Cys1806Gly
NP_000129.3:p.Cys1806Gly
LRG_778t1:c.5416T>G
LRG_778:g.194146T>G
LRG_778p1:p.Cys1806Gly
NC_000015.9:g.48748840A>C
NM_000138.4:c.5416T>G

Protein change:

C1806G

Links:

dbSNP: rs1555396419

NCBI 1000 Genomes Browser:

rs1555396419

Molecular consequence:

NM_000138.5:c.5416T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Marfan syndrome (MFS)
Synonyms:: MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000986985	Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University	no assertion criteria provided	Likely pathogenic (Jun 6, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000986985

Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University

no assertion criteria provided

Likely pathogenic
(Jun 6, 2019)

germline

clinical testing

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Mannucci L, Luciano S, Salehi LB, Gigante L, Conte C, Longo G, Ferradini V, Piumelli N, Brancati F, Ruvolo G, Novelli G, Sangiuolo F.

Clin Chim Acta. 2020 Feb;501:154-164. doi: 10.1016/j.cca.2019.10.037. Epub 2019 Nov 12.

PubMed [citation]

PMID:: 31730815

Details of each submission

From Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University, SCV000986985.1

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

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

Last Updated: Dec 11, 2022

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