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NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 5, 2017
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:
RCV002314349.9

Allele description [Variation Report for NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)]

NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)

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.2287T>C (p.Cys763Arg)
Other names:
NM_000138.5(FBN1):c.2287T>C; p.Cys763Arg
HGVS:
  • NC_000015.10:g.48497272A>G
  • NG_008805.2:g.153517T>C
  • NM_000138.5:c.2287T>CMANE SELECT
  • NP_000129.3:p.Cys763Arg
  • NP_000129.3:p.Cys763Arg
  • LRG_778t1:c.2287T>C
  • LRG_778:g.153517T>C
  • LRG_778p1:p.Cys763Arg
  • NC_000015.9:g.48789469A>G
  • NM_000138.4:c.2287T>C
Protein change:
C763R
Links:
dbSNP: rs1555399361
NCBI 1000 Genomes Browser:
rs1555399361
Molecular consequence:
  • NM_000138.5:c.2287T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000738872Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Sep 5, 2017) 		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, SCV000738872.5

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

Description

The p.C763R variant (also known as c.2287T>C), located in coding exon 18 of the FBN1 gene, results from a T to C substitution at nucleotide position 2287. The cysteine at codon 763 is replaced by arginine, an amino acid with highly dissimilar properties, and is predicted to disrupt disulfide bonding in the cbEGF-like #07 domain. The majority of FBN1 mutations identified to date have involved the substitution or generation of cysteine residues within cbEGF domains (Vollbrandt T et al. J Biol Chem. 2004;279(31):32924-32931). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Oct 26, 2024