U.S. flag

An official website of the United States government

NM_000138.5(FBN1):c.3082+1G>C AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 26, 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:
RCV002310939.9

Allele description [Variation Report for NM_000138.5(FBN1):c.3082+1G>C]

NM_000138.5(FBN1):c.3082+1G>C

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.3082+1G>C
HGVS:
  • NC_000015.10:g.48489850C>G
  • NG_008805.2:g.160939G>C
  • NM_000138.5:c.3082+1G>CMANE SELECT
  • NM_001406716.1:c.3082+1G>C
  • LRG_778t1:c.3082+1G>C
  • LRG_778:g.160939G>C
  • NC_000015.9:g.48782047C>G
  • NM_000138.4:c.3082+1G>C
Links:
dbSNP: rs886038996
NCBI 1000 Genomes Browser:
rs886038996
Molecular consequence:
  • NM_000138.5:c.3082+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406716.1:c.3082+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000319564Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 26, 2015) 		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

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T.

Eur J Hum Genet. 2001 Jan;9(1):13-21.

PubMed [citation]
PMID:
11175294

Details of each submission

From Ambry Genetics, SCV000319564.7

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

Description

The c.3082+1G>C intronic variant results from a G to C substitution one nucleotide after coding exon 24 of the FBN1 gene. Another splicing pathogenic mutation has been described at the same nucleotide position (c.3082+1G>T). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native donor splice site; however, direct evidence is unavailable. In addition to the clinical data presented in the literature, since alterations that disrupt the canonical splice donor site are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Oct 13, 2024