NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 21, 2018
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:: RCV000627262.1

Allele description [Variation Report for NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter)]

NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter)

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.3795T>A (p.Cys1265Ter)

HGVS:

NC_000015.10:g.48483861A>T
NG_008805.2:g.166928T>A
NM_000138.5:c.3795T>AMANE SELECT
NP_000129.3:p.Cys1265Ter
NP_000129.3:p.Cys1265Ter
LRG_778t1:c.3795T>A
LRG_778:g.166928T>A
LRG_778p1:p.Cys1265Ter
NC_000015.9:g.48776058A>T
NM_000138.4:c.3795T>A

Protein change:

C1265*

Links:

dbSNP: rs1555398278

NCBI 1000 Genomes Browser:

rs1555398278

Molecular consequence:

NM_000138.5:c.3795T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000748254	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 21, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000748254

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 21, 2018)

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, SCV000748254.2

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

Description

The C1265X variant in the FBN1 gene has been reported in a father and son who both fulfilled Ghent diagnostic criteria for Marfan syndrome (Latasiewicz et al., 2016). C1265X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the FBN1 gene have been reported in the Human Gene Mutation Database in association with Marfan syndrome and other FBN1-related disorders (Stenson et al., 2014). Furthermore, the C1265X variant is not observed in large population cohorts (Lek et al., 2016).

#	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

ClinVar

Relating variation to medicine