NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 25, 2017
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:: RCV002317720.9

Allele description [Variation Report for NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)]

NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)

Other names:

p.N1773S:AAT>AGT; p.Asn1773Ser

HGVS:

NC_000023.11:g.154354455T>C
NG_011506.2:g.25184A>G
NM_001110556.2:c.5342A>GMANE SELECT
NM_001456.4:c.5318A>G
NP_001104026.1:p.Asn1781Ser
NP_001447.2:p.Asn1773Ser
NP_001447.2:p.Asn1773Ser
LRG_1340t1:c.5342A>G
LRG_1340:g.25184A>G
LRG_1340p1:p.Asn1781Ser
NC_000023.10:g.153582823T>C
NM_001456.3:c.5318A>G

Protein change:

N1773S

Links:

dbSNP: rs373089783

NCBI 1000 Genomes Browser:

rs373089783

Molecular consequence:

NM_001110556.2:c.5342A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.5318A>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000849653	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 25, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000849653

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 25, 2017)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV000849653.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.N1773S variant (also known as c.5318A>G), located in coding exon 31 of the FLNA gene, results from an A to G substitution at nucleotide position 5318. The asparagine at codon 1773 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not 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.

#	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: Nov 24, 2024

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