NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2022
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:: RCV000181541.11

Allele description [Variation Report for NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)]

NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)

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.5368C>T (p.Arg1790Ter)

Other names:

p.R1790X:CGA>TGA

HGVS:

NC_000015.10:g.48456691G>A
NG_008805.2:g.194098C>T
NM_000138.5:c.5368C>TMANE SELECT
NP_000129.3:p.Arg1790Ter
NP_000129.3:p.Arg1790Ter
LRG_778t1:c.5368C>T
LRG_778:g.194098C>T
LRG_778p1:p.Arg1790Ter
NC_000015.9:g.48748888G>A
NM_000138.4:c.5368C>T
NM_000138.5:c.5368C>T
c.5368C>T
p.Arg1790X

Protein change:

R1790*

Links:

dbSNP: rs113249837

NCBI 1000 Genomes Browser:

rs113249837

Molecular consequence:

NM_000138.5:c.5368C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV000233844	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000233844

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 1, 2022)

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, SCV000233844.12

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

Description

Has been reported several times in association with Marfan syndrome or other Marfan-like syndrome in unrelated patients referred for genetic testing at GeneDx and in the published literature (Arbustini et al., 2005; Sakai et al., 2006; Howarth et al., 2007; Chung et al., 2009; Magyar et al., 2009; Yoo et al., 2010; Stengl et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 16222657, 19533785, 16835936, 17627385, 19293843, 26787436, 19863550, 19618372, 33059708)

#	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 24, 2024

ClinVar

Relating variation to medicine