NM_000138.5(FBN1):c.3082+8del AND Marfan syndrome

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
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:: RCV000029722.4

Allele description [Variation Report for NM_000138.5(FBN1):c.3082+8del]

NM_000138.5(FBN1):c.3082+8del

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_000138.5(FBN1):c.3082+8del

HGVS:

NC_000015.10:g.48489843del
NG_008805.2:g.160946del
NM_000138.5:c.3082+8delMANE SELECT
LRG_778t1:c.3082+8del
LRG_778:g.160946del
NC_000015.9:g.48782040del
NC_000015.9:g.48782040delC
NM_000138.4:c.3082+8del
NM_000138.4:c.3082+8delG
c.3082+8delG

Links:

dbSNP: rs193922196

NCBI 1000 Genomes Browser:

rs193922196

Molecular consequence:

NM_000138.5:c.3082+8del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000052375	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	no assertion criteria provided	Benign (Jul 17, 2014)	germline	clinical testing
SCV000786920	Center for Medical Genetics Ghent, University of Ghent	no assertion criteria provided	Uncertain significance (Nov 7, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052375

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

no assertion criteria provided

Benign
(Jul 17, 2014)

germline

clinical testing

SCV000786920

Center for Medical Genetics Ghent, University of Ghent

no assertion criteria provided

Uncertain significance
(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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052375.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Medical Genetics Ghent, University of Ghent, SCV000786920.1

#	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: Nov 3, 2024

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