NM_000138.5(FBN1):c.5817del (p.Asn1940fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 31, 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:: RCV000181666.1

Allele description [Variation Report for NM_000138.5(FBN1):c.5817del (p.Asn1940fs)]

NM_000138.5(FBN1):c.5817del (p.Asn1940fs)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_000138.5(FBN1):c.5817del (p.Asn1940fs)

HGVS:

NC_000015.10:g.48445478del
NG_008805.2:g.205313del
NM_000138.5:c.5817delMANE SELECT
NP_000129.3:p.Asn1940fs
LRG_778:g.205313del
NC_000015.9:g.48737673del
NC_000015.9:g.48737675del
NM_000138.4:c.5817delG
p.N1940IfsX40

Protein change:

N1940fs

Links:

dbSNP: rs794728311

NCBI 1000 Genomes Browser:

rs794728311

Molecular consequence:

NM_000138.5:c.5817del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000233969	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 31, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000233969

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 31, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000233969.10

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

Description

The c.5817delG in the FBN1 gene has been reported in one individual who met Ghent criteria for Marfan Syndrome, whose features included: dilation of the ascending aorta, MVP, dural ectasia, and skeletal findings (S?ylen et al., 2009).The c.5817delG mutation causes a shift in reading frame starting at codon Asparagine 1940, changing it to an Isoleucine, and creating a premature stop codon at position 40 of the new reading frame, denoted p.Asn1940IlefsX40. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the FBN1 gene have been reported in association with Marfan syndrome. In summary, c.5817delG in the FBN1 gene is interpreted as a disease-causing mutation.

#	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: Sep 29, 2024

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