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NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 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:
RCV000181504.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter)]

NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter)

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.4050C>A (p.Cys1350Ter)
Other names:
p.C1350X:TGC>TGA
HGVS:
  • NC_000015.10:g.48474565G>T
  • NG_008805.2:g.176224C>A
  • NM_000138.5:c.4050C>AMANE SELECT
  • NP_000129.3:p.Cys1350Ter
  • NP_000129.3:p.Cys1350Ter
  • LRG_778t1:c.4050C>A
  • LRG_778:g.176224C>A
  • LRG_778p1:p.Cys1350Ter
  • NC_000015.9:g.48766762G>T
  • NM_000138.4:c.4050C>A
Protein change:
C1350*
Links:
dbSNP: rs201058219
NCBI 1000 Genomes Browser:
rs201058219
Molecular consequence:
  • NM_000138.5:c.4050C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000233807GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 10, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000233807.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Cys1350Stop (TGC>TGA): c.4050 C>A in exon 33 of the FBN1 gene (NM_000138.4)The C1350X mutation in the FBN1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. C1350X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the FBN1 gene have been reported in association with Marfan syndrome or other FBN1-related disorder. Furthermore, the C1350X variant was not observed with any significant frequency in the 1000 Genomes database and was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, C1350X in the FBN1 gene is interpreted as a disease-causing mutation. The variant is found in TAAD panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022