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NM_000138.5(FBN1):c.4583-9G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 13, 2023
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:
RCV003738117.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4583-9G>A]

NM_000138.5(FBN1):c.4583-9G>A

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.4583-9G>A
HGVS:
  • NC_000015.10:g.48468111C>T
  • NG_008805.2:g.182678G>A
  • NM_000138.5:c.4583-9G>AMANE SELECT
  • LRG_778:g.182678G>A
  • NC_000015.9:g.48760308C>T
Links:
dbSNP: rs2043338449
NCBI 1000 Genomes Browser:
rs2043338449
Molecular consequence:
  • NM_000138.5:c.4583-9G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004563689ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Jul 13, 2023) 		germlineclinical testing

Citation Link

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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, SCV004563689.1

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

Description

The FBN1 c.4583-9G>A variant is reported in the literature in one individual affected with Marfan syndrome (Baudhuin 2015). This variant is also reported in ClinVar (Variation ID: 1444385) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant may impact splicing by creating a novel cryptic acceptor splice site. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time. References: Baudhuin LM et al. Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. J Hum Genet. 2015 May;60(5):241-52. PMID: 25652356.

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

Last Updated: Sep 29, 2024