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NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 2019
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:
RCV002363007.2

Allele description [Variation Report for NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)]

NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)

Gene:
FBN2:fibrillin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.3
Genomic location:
Preferred name:
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
HGVS:
  • NC_000005.10:g.128335497T>C
  • NG_008750.1:g.207547A>G
  • NM_001999.4:c.3805A>GMANE SELECT
  • NP_001990.2:p.Ser1269Gly
  • NC_000005.9:g.127671189T>C
  • NM_001999.3:c.3805A>G
  • p.S1269G
  • p.Ser1269Gly
Protein change:
S1269G
Links:
dbSNP: rs765649978
NCBI 1000 Genomes Browser:
rs765649978
Molecular consequence:
  • NM_001999.4:c.3805A>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002625450Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 30, 2019) 		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, SCV002625450.2

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

Description

The p.S1269G variant (also known as c.3805A>G), located in coding exon 29 of the FBN2 gene, results from an A to G substitution at nucleotide position 3805. The serine at codon 1269 is replaced by glycine, an amino acid with similar properties, and is located in the located in cbEGF-like #16 domain. This amino acid position is well conserved in available vertebrate species; however, glycine is the reference amino acid in other vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice donor site; however, direct evidence is unavailable. 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