NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 23, 2023
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:: RCV004021206.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met)]

NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met)

HGVS:

NC_000023.11:g.154353180G>A
NG_011506.2:g.26459C>T
NM_001110556.2:c.6047C>TMANE SELECT
NM_001456.4:c.6023C>T
NP_001104026.1:p.Thr2016Met
NP_001447.2:p.Thr2008Met
NP_001447.2:p.Thr2008Met
LRG_1340t1:c.6047C>T
LRG_1340:g.26459C>T
LRG_1340p1:p.Thr2016Met
NC_000023.10:g.153581548G>A
NM_001456.3:c.6023C>T

Protein change:

T2008M

Links:

dbSNP: rs781946802

NCBI 1000 Genomes Browser:

rs781946802

Molecular consequence:

NM_001110556.2:c.6047C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.6023C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004870539	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004870539

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 23, 2023)

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, SCV004870539.1

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

Description

The c.6023C>T (p.T2008M) alteration is located in exon 37 (coding exon 36) of the FLNA gene. This alteration results from a C to T substitution at nucleotide position 6023, causing the threonine (T) at amino acid position 2008 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, 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: Sep 29, 2024

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