NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 1, 2019
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:: RCV001001353.15

Allele description [Variation Report for NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)]

NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)

HGVS:

NC_000023.11:g.154360472C>T
NG_011506.2:g.19167G>A
NM_001110556.2:c.3323G>AMANE SELECT
NM_001456.4:c.3323G>A
NP_001104026.1:p.Cys1108Tyr
NP_001447.2:p.Cys1108Tyr
NP_001447.2:p.Cys1108Tyr
LRG_1340t1:c.3323G>A
LRG_1340:g.19167G>A
LRG_1340p1:p.Cys1108Tyr
NC_000023.10:g.153588840C>T
NM_001456.3:c.3323G>A

Protein change:

C1108Y

Links:

dbSNP: rs371677498

NCBI 1000 Genomes Browser:

rs371677498

Molecular consequence:

NM_001110556.2:c.3323G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.3323G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001158548	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Jul 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001158548

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Jul 1, 2019)

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158548.1

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

Description

The FLNA c.3323G>A; p.Cys1108Tyr variant (rs371677498), to our knowledge, is not reported in the medical literature but is reported as uncertain significance in ClinVar (Variation ID: 93756). This variant is found in the general population with an overall allele frequency of 00.0025% (5/202552 alleles, including 3 hemizygotes) in the Genome Aggregation Database. The cysteine at codon 1108 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Cys1108Tyr variant is uncertain at this time.

#	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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