NM_000138.5(FBN1):c.4197del (p.Phe1400fs) AND Marfan syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 16, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000208483.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4197del (p.Phe1400fs)]

NM_000138.5(FBN1):c.4197del (p.Phe1400fs)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_000138.5(FBN1):c.4197del (p.Phe1400fs)

HGVS:

NC_000015.10:g.48474268del
NG_008805.2:g.176521del
NM_000138.5:c.4197delMANE SELECT
NP_000129.3:p.Phe1400fs
LRG_778:g.176521del
NC_000015.9:g.48766465del
NM_000138.4:c.4197delC

Protein change:

F1400fs

Links:

dbSNP: rs869025421

NCBI 1000 Genomes Browser:

rs869025421

Molecular consequence:

NM_000138.5:c.4197del - 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
SCV000263919	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Likely pathogenic (Dec 16, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000263919

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Likely pathogenic
(Dec 16, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV000263919.2

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

Last Updated: Dec 11, 2022

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