NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Apr 11, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000181424.38

Allele description [Variation Report for NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)]

NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)

Genes:

LOC113939944:Sharpr-MPRA regulatory region 9539 [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.1090C>T (p.Arg364Ter)

Other names:

p.R364X:CGA>TGA

HGVS:

NC_000015.10:g.48520716G>A
NG_008805.2:g.130073C>T
NG_063729.1:g.285G>A
NM_000138.5:c.1090C>TMANE SELECT
NP_000129.3:p.Arg364Ter
NP_000129.3:p.Arg364Ter
LRG_778t1:c.1090C>T
LRG_778:g.130073C>T
LRG_778p1:p.Arg364Ter
NC_000015.9:g.48812913G>A
NM_000138.4:c.1090C>T
p.Arg364*

Protein change:

R364*

Links:

dbSNP: rs794728165

NCBI 1000 Genomes Browser:

rs794728165

Molecular consequence:

NM_000138.5:c.1090C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000233726	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 11, 2024)	germline	clinical testing	Citation Link,
SCV001447091	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001714516	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 23, 2019)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 12938084, 17663468, 25652356, 28973303, 30341550, 25741868
SCV001747126	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jun 1, 2021)	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	1	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C.

Hum Mutat. 2003 Sep;22(3):199-208. Review.

PubMed [citation]

PMID:: 12938084

Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.

Rand-Hendriksen S, Tjeldhorn L, Lundby R, Semb SO, Offstad J, Andersen K, Geiran O, Paus B.

Am J Med Genet A. 2007 Sep 1;143A(17):1968-77.

PubMed [citation]

PMID:: 17663468

See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000233726.11

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

Description

Reported numerous times in association with Marfan syndrome and/or TAAD (PMID: 25652356, 12938084, 17253931, 17657824, 17663468, 19293843, 30341550, 29543232); 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: 17253931, 29543232, 34498425, 33648514, 31825148, 25525159, 17657824, 17663468, 19293843, 12938084, 25652356, 28973303, 30341550, 31211624, 33483584, 33824467, 32679894, 33059708, 27535533, 33910934, 35741789, 38094723, 37116669)

#	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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447091.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714516.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

Description

PVS1, PS4_moderate, PM2, PP1

#	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		1	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001747126.21

#	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 22, 2024

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