U.S. flag

An official website of the United States government

NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2015
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:
RCV002310852.9

Allele description [Variation Report for NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser)]

NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser)

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.5825G>C (p.Cys1942Ser)
HGVS:
  • NC_000015.10:g.48445468C>G
  • NG_008805.2:g.205321G>C
  • NM_000138.5:c.5825G>CMANE SELECT
  • NP_000129.3:p.Cys1942Ser
  • NP_000129.3:p.Cys1942Ser
  • LRG_778t1:c.5825G>C
  • LRG_778:g.205321G>C
  • LRG_778p1:p.Cys1942Ser
  • NC_000015.9:g.48737665C>G
  • NM_000138.4:c.5825G>C
Protein change:
C1942S
Links:
dbSNP: rs794728241
NCBI 1000 Genomes Browser:
rs794728241
Molecular consequence:
  • NM_000138.5:c.5825G>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319214Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 20, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000319214.7

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

Description

The p.C1942S pathogenic mutation (also known as c.5825G>C), located in coding exon 47 of the FBN1 gene, results from a G to C substitution at nucleotide position 5825. The cysteine at codon 1942 is replaced by serine, an amino acid with dissimilar properties, and is located in the cb EGF-like #29 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 alteration has been determined to be the result of a de novo mutation or germline mosaicism in one family with Marfan syndrome. Based on the supporting evidence, p.C1942S is interpreted as a disease-causing mutation.

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

Last Updated: Nov 3, 2024