NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2017
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:
RCV002314355.9

Allele description [Variation Report for NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)]

NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)

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.4523G>T (p.Ser1508Ile)
HGVS:
  • NC_000015.10:g.48468471C>A
  • NG_008805.2:g.182318G>T
  • NM_000138.5:c.4523G>TMANE SELECT
  • NP_000129.3:p.Ser1508Ile
  • NP_000129.3:p.Ser1508Ile
  • LRG_778t1:c.4523G>T
  • LRG_778:g.182318G>T
  • LRG_778p1:p.Ser1508Ile
  • NC_000015.9:g.48760668C>A
  • NM_000138.4:c.4523G>T
Protein change:
S1508I
Links:
dbSNP: rs1555397207
NCBI 1000 Genomes Browser:
rs1555397207
Molecular consequence:
  • NM_000138.5:c.4523G>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000738884Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 8, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000738884.5

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

Description

The p.S1508I variant (also known as c.4523G>T), located in coding exon 36 of the FBN1 gene, results from a G to T substitution at nucleotide position 4523. The serine at codon 1508 is replaced by isoleucine, an amino acid with dissimilar properties, and is located in the cb EGF-like #22 domain. 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: Oct 26, 2024