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NM_000138.5(FBN1):c.6080G>T (p.Gly2027Val) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 2014
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:
RCV002310875.9

Allele description [Variation Report for NM_000138.5(FBN1):c.6080G>T (p.Gly2027Val)]

NM_000138.5(FBN1):c.6080G>T (p.Gly2027Val)

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.6080G>T (p.Gly2027Val)
HGVS:
  • NC_000015.10:g.48441804C>A
  • NG_008805.2:g.208985G>T
  • NM_000138.5:c.6080G>TMANE SELECT
  • NP_000129.3:p.Gly2027Val
  • NP_000129.3:p.Gly2027Val
  • LRG_778t1:c.6080G>T
  • LRG_778:g.208985G>T
  • LRG_778p1:p.Gly2027Val
  • NC_000015.9:g.48734001C>A
  • NM_000138.4:c.6080G>T
Protein change:
G2027V
Links:
dbSNP: rs886038958
NCBI 1000 Genomes Browser:
rs886038958
Molecular consequence:
  • NM_000138.5:c.6080G>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319328Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 16, 2014) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.

Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-Béroud G, Béroud C, Roux AF, Claustres M.

Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131.

PubMed [citation]
PMID:
19802897

Details of each submission

From Ambry Genetics, SCV000319328.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.G2027V variant (also known as c.6080G>T), located in coding exon 49 of the FBN1 gene in the cb EGF-like #31 domain, results from a G to T substitution at nucleotide position 6080. The glycine at codon 2027 is replaced by valine, an amino acid with dissimilar properties. In a study of missense mutations of conserved glycine residues in fibrillin-1 cb-EGF-like domains, this alteration and several other potential glycine substitutions at the same codon were predicted to be pathogenous based on in silico analyses (Khau Van Kien P et al. Hum Mutat. 2010;31(1):E1021-42). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6,494 samples (12,988 alleles) with coverage at this position. 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 variant remains unclear.

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

Last Updated: Nov 3, 2024