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NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 2023
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:
RCV002359255.2

Allele description [Variation Report for NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)]

NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
HGVS:
  • NC_000015.10:g.48445438C>A
  • NG_008805.2:g.205351G>T
  • NM_000138.5:c.5855G>TMANE SELECT
  • NP_000129.3:p.Gly1952Val
  • LRG_778t1:c.5855G>T
  • LRG_778:g.205351G>T
  • NC_000015.9:g.48737635C>A
  • NM_000138.4:c.5855G>T
Protein change:
G1952V
Links:
dbSNP: rs2141249218

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
SCV002647653Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 26, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, et al.

Genet Med. 2022 May;24(5):1045-1053. doi: 10.1016/j.gim.2021.12.015. Epub 2022 Jan 17.

PubMed [citation]
PMID:
35058154
PMCID:
PMC9680912

Details of each submission

From Ambry Genetics, SCV002647653.2

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

Description

The p.G1952V variant (also known as c.5855G>T), located in coding exon 47 of the FBN1 gene, results from a G to T substitution at nucleotide position 5855. The glycine at codon 1952 is replaced by valine, an amino acid with dissimilar properties. This variant alters a critical glycine in a sterically constrained region and is expected to disrupt FBN1 function (Van Kien PK et al. Hum Mutat. 2010;31(1):E1021-42). 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