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NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 2024
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:
RCV004619347.1

Allele description [Variation Report for NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)]

NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)

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.7383C>G (p.Asn2461Lys)
HGVS:
  • NC_000015.10:g.48425439G>C
  • NG_008805.2:g.225350C>G
  • NM_000138.5:c.7383C>GMANE SELECT
  • NP_000129.3:p.Asn2461Lys
  • NP_000129.3:p.Asn2461Lys
  • LRG_778t1:c.7383C>G
  • LRG_778:g.225350C>G
  • LRG_778p1:p.Asn2461Lys
  • NC_000015.9:g.48717636G>C
  • NM_000138.4:c.7383C>G
Protein change:
N2461K
Links:
dbSNP: rs754047254
NCBI 1000 Genomes Browser:
rs754047254
Molecular consequence:
  • NM_000138.5:c.7383C>G - 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
SCV005113168Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 28, 2024)
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, SCV005113168.1

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

Description

The p.N2461K variant (also known as c.7383C>G), located in coding exon 59 of the FBN1 gene, results from a C to G substitution at nucleotide position 7383. The asparagine at codon 2461 is replaced by lysine, an amino acid with similar properties. This variant alters a conserved residue in the calcium-binding consensus sequence of a cbEGF domain and is expected to disrupt FBN1 function (Handford PA et al. Nature. 1991; 351(6322):164-7). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 24, 2024