NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 20, 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:: RCV004020371.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)]

NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)

Other names:

p.R484Q:CGG>CAG

HGVS:

NC_000023.11:g.154365465C>T
NG_011506.2:g.14174G>A
NM_001110556.2:c.1451G>AMANE SELECT
NM_001456.4:c.1451G>A
NP_001104026.1:p.Arg484Gln
NP_001447.2:p.Arg484Gln
NP_001447.2:p.Arg484Gln
LRG_1340t1:c.1451G>A
LRG_1340:g.14174G>A
LRG_1340p1:p.Arg484Gln
NC_000023.10:g.153593833C>T
NM_001456.3:c.1451G>A

Protein change:

R484Q

Links:

dbSNP: rs782371735

NCBI 1000 Genomes Browser:

rs782371735

Molecular consequence:

NM_001110556.2:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003702408	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jan 20, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 30293987, 31625567, 33077954 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003702408

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jan 20, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Alankarage D, Ip E, Szot JO, Munro J, Blue GM, Harrison K, Cuny H, Enriquez A, Troup M, Humphreys DT, Wilson M, Harvey RP, Sholler GF, Graham RM, Ho JWK, Kirk EP, Pachter N, Chapman G, Winlaw DS, Giannoulatou E, Dunwoodie SL.

Genet Med. 2019 May;21(5):1111-1120. doi: 10.1038/s41436-018-0296-x. Epub 2018 Oct 8.

PubMed [citation]

PMID:: 30293987

Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.

Fakhro KA, Robay A, Rodrigues-Flores JL, Mezey JG, Al-Shakaki AA, Chidiac O, Stadler D, Malek JA, Imam AB, Sheikh A, Azzam A, Janahi I, Khanjar I, Osman K, Ziki MA, Mahmah MA, Selim M, Numeiri N, Ali R, Lakhani S, Butt F, Omran TB, et al.

Hum Mol Genet. 2019 Dec 1;28(23):3970-3981. doi: 10.1093/hmg/ddz134.

PubMed [citation]

PMID:: 31625567

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV003702408.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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