NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser) AND Marfan syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 7, 2017
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:: RCV000663957.1

Allele description [Variation Report for NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)]

NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)

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.7486T>A (p.Cys2496Ser)

HGVS:

NC_000015.10:g.48422036A>T
NG_008805.2:g.228753T>A
NM_000138.5:c.7486T>AMANE SELECT
NP_000129.3:p.Cys2496Ser
NP_000129.3:p.Cys2496Ser
LRG_778t1:c.7486T>A
LRG_778:g.228753T>A
LRG_778p1:p.Cys2496Ser
NC_000015.9:g.48714233A>T
NM_000138.4:c.7486T>A

Protein change:

C2496S

Links:

dbSNP: rs1555394246

NCBI 1000 Genomes Browser:

rs1555394246

Molecular consequence:

NM_000138.5:c.7486T>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
SCV000787334	Center for Medical Genetics Ghent, University of Ghent	no assertion criteria provided	Likely pathogenic (Nov 7, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000787334

Center for Medical Genetics Ghent, University of Ghent

no assertion criteria provided

Likely pathogenic
(Nov 7, 2017)

germline

clinical testing

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

Details of each submission

From Center for Medical Genetics Ghent, University of Ghent, SCV000787334.1

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

Last Updated: Dec 11, 2022

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