NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser) AND Familial thoracic aortic aneurysm and aortic dissection

Clinical significance:Uncertain significance (Last evaluated: Feb 8, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001178819.1

Allele description [Variation Report for NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser)]

NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser)
Other names:
p.N2665S:AAT>AGT
HGVS:
  • NC_000015.10:g.48415593T>C
  • NG_008805.2:g.235196A>G
  • NM_000138.4:c.7994A>G
  • NP_000129.3:p.Asn2665Ser
  • LRG_778t1:c.7994A>G
  • LRG_778:g.235196A>G
  • LRG_778p1:p.Asn2665Ser
  • NC_000015.9:g.48707790T>C
Protein change:
N2665S
Links:
dbSNP: rs763173031
NCBI 1000 Genomes Browser:
rs763173031
Molecular consequence:
  • NM_000138.4:c.7994A>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
SCV001343353Color Health, Inccriteria provided, single submitter
Uncertain significance
(Feb 8, 2019)
germlineclinical testing

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

Description

Variant of Uncertain Significance due to insufficient evidence: This missense variant replaces asparagine with serine at codon 2665 of the FBN1 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/245422 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.

SCV001343353

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV001343353.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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