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NM_000138.5(FBN1):c.4569_4577delinsT (p.Val1524fs) AND Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 4, 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:
RCV003493334.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4569_4577delinsT (p.Val1524fs)]

NM_000138.5(FBN1):c.4569_4577delinsT (p.Val1524fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.4569_4577delinsT (p.Val1524fs)
HGVS:
  • NC_000015.10:g.48468417_48468425delinsA
  • NG_008805.2:g.182364_182372delinsT
  • NM_000138.5:c.4569_4577delinsTMANE SELECT
  • NM_001406716.1:c.4569_4577delinsT
  • NP_000129.3:p.Val1524Cysfs
  • NP_000129.3:p.Val1524fs
  • NP_001393645.1:p.Val1524fs
  • LRG_778t1:c.4569_4577delAGTTGGCTGinsT
  • LRG_778:g.182364_182372delinsT
  • LRG_778p1:p.Val1524Cysfs
  • NC_000015.9:g.48760614_48760622delinsA
  • NM_000138.4:c.4569_4577delAGTTGGCTGinsT
Protein change:
V1524fs
Molecular consequence:
  • NM_000138.5:c.4569_4577delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406716.1:c.4569_4577delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Identifiers:
MedGen: CN229799

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004241607Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Dec 4, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004241607.1

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

Description

Variant summary: FBN1 c.4569_4577delinsT (p.Val1524CysfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 1461842 control chromosomes. To our knowledge, no occurrence of c.4569_4577delinsT in individuals affected with Marfan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Feb 14, 2024