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NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2022
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:
RCV002323688.9

Allele description [Variation Report for NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)]

NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)
HGVS:
  • NC_000023.11:g.154359551G>A
  • NG_011506.2:g.20088C>T
  • NM_001110556.2:c.4075C>TMANE SELECT
  • NM_001456.4:c.4075C>T
  • NP_001104026.1:p.Arg1359Cys
  • NP_001447.2:p.Arg1359Cys
  • NP_001447.2:p.Arg1359Cys
  • LRG_1340t1:c.4075C>T
  • LRG_1340:g.20088C>T
  • LRG_1340p1:p.Arg1359Cys
  • NC_000023.10:g.153587919G>A
  • NM_001456.3:c.4075C>T
  • p.Arg1359Cys
Protein change:
R1359C
Links:
dbSNP: rs369768801
NCBI 1000 Genomes Browser:
rs369768801
Molecular consequence:
  • NM_001110556.2:c.4075C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.4075C>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
SCV002626472Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 2, 2022) 		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, SCV002626472.2

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

Description

The p.R1359C variant (also known as c.4075C>T), located in coding exon 23 of the FLNA gene, results from a C to T substitution at nucleotide position 4075. The arginine at codon 1359 is replaced by cysteine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (9/202257) total alleles studied, with 3 hemizygote(s) observed. The highest observed frequency was 0.03% (6/18200) of African alleles. 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: Nov 24, 2024