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NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 2022
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:
RCV002453863.2

Allele description [Variation Report for NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)]

NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)

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.3400G>A (p.Gly1134Arg)
HGVS:
  • NC_000015.10:g.48487375C>T
  • NG_008805.2:g.163414G>A
  • NM_000138.5:c.3400G>AMANE SELECT
  • NP_000129.3:p.Gly1134Arg
  • NP_000129.3:p.Gly1134Arg
  • LRG_778t1:c.3400G>A
  • LRG_778:g.163414G>A
  • LRG_778p1:p.Gly1134Arg
  • NC_000015.9:g.48779572C>T
  • NM_000138.4:c.3400G>A
Protein change:
G1134R
Links:
dbSNP: rs372404949
NCBI 1000 Genomes Browser:
rs372404949
Molecular consequence:
  • NM_000138.5:c.3400G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002612650Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(May 31, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002612650.2

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

Description

The p.G1134R variant (also known as c.3400G>A), located in coding exon 27 of the FBN1 gene, results from a G to A substitution at nucleotide position 3400. The glycine at codon 1134 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024