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NM_001110556.2(FLNA):c.691C>T (p.Gln231Ter) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 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:
RCV002362370.2

Allele description [Variation Report for NM_001110556.2(FLNA):c.691C>T (p.Gln231Ter)]

NM_001110556.2(FLNA):c.691C>T (p.Gln231Ter)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.691C>T (p.Gln231Ter)
HGVS:
  • NC_000023.11:g.154367670G>A
  • NG_011506.2:g.11969C>T
  • NM_001110556.2:c.691C>TMANE SELECT
  • NM_001456.4:c.691C>T
  • NP_001104026.1:p.Gln231Ter
  • NP_001447.2:p.Gln231Ter
  • LRG_1340t1:c.691C>T
  • LRG_1340:g.11969C>T
  • LRG_1340p1:p.Gln231Ter
  • NC_000023.10:g.153596038G>A
  • NM_001456.3:c.691C>T
Protein change:
Q231*
Molecular consequence:
  • NM_001110556.2:c.691C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001456.4:c.691C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002661483Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 18, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

Carabalona A, Beguin S, Pallesi-Pocachard E, Buhler E, Pellegrino C, Arnaud K, Hubert P, Oualha M, Siffroi JP, Khantane S, Coupry I, Goizet C, Gelot AB, Represa A, Cardoso C.

Hum Mol Genet. 2012 Mar 1;21(5):1004-17. doi: 10.1093/hmg/ddr531. Epub 2011 Nov 10.

PubMed [citation]
PMID:
22076441

Details of each submission

From Ambry Genetics, SCV002661483.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.Q231* pathogenic mutation (also known as c.691C>T), located in coding exon 3 of the FLNA gene, results from a C to T substitution at nucleotide position 691. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This alteration has been reported in a 35-week-old fetus with a prenatal detection of periventricular nodular heterotopia by brain MRI (Carabalona A et al. Hum Mol Genet, 2012 Mar;21:1004-17). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Although loss of function alterations in FLNA have been associated with periventricular nodular heterotopia (PVNH), haploinsufficiency for FLNA has not been clearly established as a mechanism of disease for otopalatodigital syndrome types 1 and 2 (OPD1 and OPD2). Based on the supporting evidence, this variant is expected to be causative of periventricular nodular heterotopia (PVNH); however, its clinical significance for otopalatodigital syndrome types 1 and 2 (OPD1 and OPD2) is unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024