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NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 28, 2016
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:
RCV002314333.9

Allele description [Variation Report for NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs)]

NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs)
HGVS:
  • NC_000015.10:g.48490034_48490035dup
  • NG_008805.2:g.160755_160756dup
  • NM_000138.5:c.2899_2900dupMANE SELECT
  • NP_000129.3:p.Thr968fs
  • LRG_778:g.160755_160756dup
  • NC_000015.9:g.48782231_48782232dup
  • NM_000138.4:c.2899_2900dupTG
Protein change:
T968fs
Links:
dbSNP: rs1555398828
NCBI 1000 Genomes Browser:
rs1555398828
Molecular consequence:
  • NM_000138.5:c.2899_2900dup - 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
SCV000738841Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 28, 2016) 		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, SCV000738841.5

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

Description

The c.2899_2900dupTG pathogenic mutation, located in coding exon 24 of the FBN1 gene, results from a duplication of TG at nucleotide position 2899, causing a translational frameshift with a predicted alternate stop codon (p.T968Afs*32). 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: Oct 13, 2024