NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) AND Marfan syndrome

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Mar 1, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000208498.2

Allele description [Variation Report for NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)]

NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)

HGVS:

NC_000015.10:g.48427619CA[1]
NG_008805.2:g.223167TG[1]
NM_000138.5:c.7151_7152delMANE SELECT
NP_000129.3:p.Val2384fs
LRG_778t1:c.7151_7152del
LRG_778:g.223167TG[1]
NC_000015.9:g.48719816CA[1]
NM_000138.4:c.7151_7152del
NM_000138.4:c.7151_7152delTG

Protein change:

V2384fs

Links:

dbSNP: rs869025423

NCBI 1000 Genomes Browser:

rs869025423

Molecular consequence:

NM_000138.5:c.7151_7152del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000263922	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Likely pathogenic (Dec 2, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000787304	Center for Medical Genetics Ghent, University of Ghent	no assertion criteria provided	Pathogenic (Nov 7, 2017)	germline	clinical testing
SCV002025435	Centre of Medical Genetics, University of Antwerp	criteria provided, single submitter (Submitter's publication)	Pathogenic (Mar 1, 2021)	unknown	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000263922

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Likely pathogenic
(Dec 2, 2015)

germline

clinical testing

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

Citation Link,

SCV000787304

Center for Medical Genetics Ghent, University of Ghent

no assertion criteria provided

Pathogenic
(Nov 7, 2017)

germline

clinical testing

SCV002025435

Centre of Medical Genetics, University of Antwerp

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Mar 1, 2021)

unknown

research

Citation Link

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
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro RV, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ.

Hum Mutat. 2011 Sep;32(9):1053-62. doi: 10.1002/humu.21525. Epub 2011 Jul 20.

PubMed [citation]

PMID:: 21542060

Details of each submission

From Blueprint Genetics, SCV000263922.2

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

From Center for Medical Genetics Ghent, University of Ghent, SCV000787304.1

#	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

From Centre of Medical Genetics, University of Antwerp, SCV002025435.1

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

Description

PM2, PVS1, PP4

#	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 11, 2022

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