NM_000138.5(FBN1):c.4243dup (p.Cys1415fs) AND none provided

Clinical significance:Pathogenic (Last evaluated: Oct 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001286111.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)]

NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)
HGVS:
  • NC_000015.10:g.48472644dup
  • NG_008805.2:g.178145dup
  • NM_000138.5:c.4243dupMANE SELECT
  • NP_000129.3:p.Cys1415fs
  • LRG_778t1:c.4243dup
  • LRG_778:g.178145dup
  • NC_000015.9:g.48764841dup
  • NC_000015.9:g.48764841dupA
  • NM_000138.4:c.4243dupT
Protein change:
C1415fs
Links:
Molecular consequence:
  • NM_000138.5:c.4243dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001472637ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Oct 28, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001472637.1

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

Description

The FBN1 c.4243dupT; p.Cys1415fs variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, a number of downstream truncating variants have been described in association with Marfan syndrome and are considered pathogenic (Stheneur 2009). Based on available information, the p.Cys1415fs variant is considered to be pathogenic. References: Stheneur C et al. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet. 2009 Sep;17(9):1121-8.

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

Last Updated: Jun 14, 2021

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