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NM_000138.5(FBN1):c.4700del (p.Gly1567fs) AND Marfan syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 26, 2023
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV003330091.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4700del (p.Gly1567fs)]

NM_000138.5(FBN1):c.4700del (p.Gly1567fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.4700del (p.Gly1567fs)
Other names:
NM_000138.5(FBN1):c.4700del; p.Gly1567fs
HGVS:
  • NC_000015.10:g.48467987del
  • NG_008805.2:g.182804del
  • NM_000138.5:c.4700delMANE SELECT
  • NP_000129.3:p.Gly1567fs
  • NP_000129.3:p.Gly1567fs
  • LRG_778t1:c.4700del
  • LRG_778:g.182804del
  • LRG_778p1:p.Gly1567fs
  • NC_000015.9:g.48760184del
  • NM_000138.4:c.4700del
Protein change:
G1567fs
Links:
dbSNP: rs1566904526
NCBI 1000 Genomes Browser:
rs1566904526
Molecular consequence:
  • NM_000138.5:c.4700del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Marfan syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004037326ClinGen FBN1 Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(Assertion Criteria VCEP FBN1 Version 1)		Likely pathogenic
(Sep 26, 2023) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen FBN1 Variant Curation Expert Panel, ClinGen, SCV004037326.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

NM_000138.5 c.4700del is a frameshift variant in FBN1 predicted to cause a substitution of a glycine by valine at position 1567. It is predicted to cause a shift in the reading frame and introduction of a premature termination codon 14 amino acid positions downstream, likely resulting in an absent or disrupted protein product (PVS1). This variant has been found in a proband with a phenotype suggestive for Marfan syndrome (systemic score of 6 at 22yrs-just within normal range aortic sinus) (CHEO; ClinVar Variation ID: 626879). This variant is not present in gnomAD (PM2_supporting; https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as likely pathogenic for Marfan syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen FBN1 VCEP: PVS1, PM2_supporting

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

Last Updated: Oct 7, 2023