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NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 8, 2021
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:
RCV002419456.2

Allele description [Variation Report for NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)]

NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)

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.8098C>T (p.Pro2700Ser)
Other names:
p.Pro2700Ser
HGVS:
  • NC_000015.10:g.48412697G>A
  • NG_008805.2:g.238092C>T
  • NM_000138.5:c.8098C>TMANE SELECT
  • NM_001406716.1:c.8098C>T
  • NP_000129.3:p.Pro2700Ser
  • NP_000129.3:p.Pro2700Ser
  • NP_001393645.1:p.Pro2700Ser
  • LRG_778t1:c.8098C>T
  • LRG_778:g.238092C>T
  • LRG_778p1:p.Pro2700Ser
  • NC_000015.9:g.48704894G>A
  • NM_000138.4:c.8098C>T
Protein change:
P2700S
Molecular consequence:
  • NM_000138.5:c.8098C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406716.1:c.8098C>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
SCV002678199Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 8, 2021) 		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, SCV002678199.2

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

Description

The p.P2700S variant (also known as c.8098C>T), located in coding exon 64 of the FBN1 gene, results from a C to T substitution at nucleotide position 8098. The proline at codon 2700 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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: Sep 29, 2024