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NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 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:
RCV002359171.2

Allele description [Variation Report for NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)]

NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)
HGVS:
  • NC_000023.11:g.154353299C>T
  • NG_011506.2:g.26340G>A
  • NM_001110556.2:c.6019G>AMANE SELECT
  • NM_001456.4:c.5995G>A
  • NP_001104026.1:p.Val2007Met
  • NP_001447.2:p.Val1999Met
  • LRG_1340t1:c.6019G>A
  • LRG_1340:g.26340G>A
  • LRG_1340p1:p.Val2007Met
  • NC_000023.10:g.153581667C>T
  • NM_001456.3:c.5995G>A
Protein change:
V1999M
Links:
dbSNP: rs200956777
NCBI 1000 Genomes Browser:
rs200956777
Molecular consequence:
  • NM_001110556.2:c.6019G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.5995G>A - 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
SCV002656112Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 23, 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, SCV002656112.2

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

Description

The p.V1999M variant (also known as c.5995G>A), located in coding exon 35 of the FLNA gene, results from a G to A substitution at nucleotide position 5995. The valine at codon 1999 is replaced by methionine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.003% (5/181522) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.008% (1/12371) of African/African-American alleles. 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