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NM_000138.5(FBN1):c.4721del (p.Cys1574fs) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 17, 2024
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:
RCV004599226.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4721del (p.Cys1574fs)]

NM_000138.5(FBN1):c.4721del (p.Cys1574fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.4721del (p.Cys1574fs)
HGVS:
  • NC_000015.10:g.48467964del
  • NG_008805.2:g.182825del
  • NM_000138.5:c.4721delMANE SELECT
  • NP_000129.3:p.Cys1574fs
  • LRG_778:g.182825del
  • NC_000015.9:g.48760161del
  • NM_000138.4:c.4721delG
Protein change:
C1574fs
Links:
dbSNP: rs1555397148
NCBI 1000 Genomes Browser:
rs1555397148
Molecular consequence:
  • NM_000138.5:c.4721del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000739798Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 17, 2024) 		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 Ambry Genetics, SCV000739798.4

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

Description

The c.4721delG pathogenic mutation, located in coding exon 37 of the FBN1 gene, results from a deletion of one nucleotide at nucleotide position 4721, causing a translational frameshift with a predicted alternate stop codon (p.C1574Lfs*7). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 10, 2024