NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) AND Marfan syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 1993
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:: RCV000017890.28

Allele description [Variation Report for NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr)]

NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr)

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.3350G>A (p.Cys1117Tyr)

HGVS:

NC_000015.10:g.48487425C>T
NG_008805.2:g.163364G>A
NM_000138.5:c.3350G>AMANE SELECT
NP_000129.3:p.Cys1117Tyr
LRG_778:g.163364G>A
NC_000015.9:g.48779622C>T

Protein change:

C1117Y; CYS1117TYR

Links:

OMIM: 134797.0025; dbSNP: rs137854470

NCBI 1000 Genomes Browser:

rs137854470

Molecular consequence:

NM_000138.5:c.3350G>A - 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
SCV000038169	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1993)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038169

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1993)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.

Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U.

Hum Mol Genet. 1993 Nov;2(11):1813-21.

PubMed [citation]

PMID:: 8281141

Details of each submission

From OMIM, SCV000038169.2

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

Description

In a patient with Marfan syndrome (MFS; 154700), Tynan et al. (1993) identified a G-to-A change at nucleotide 3350 of the FBN1 gene, resulting in a cys1117-to-tyr substitution.

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

Last Updated: Sep 29, 2024

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