NM_001110556.2(FLNA):c.4304-25_4304-17del AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 14, 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:: RCV002227295.7

Allele description [Variation Report for NM_001110556.2(FLNA):c.4304-25_4304-17del]

NM_001110556.2(FLNA):c.4304-25_4304-17del

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.4304-25_4304-17del

HGVS:

NC_000023.11:g.154359171_154359179del
NG_011506.2:g.20460_20468del
NM_001110556.2:c.4304-25_4304-17delMANE SELECT
NM_001456.4:c.4304-25_4304-17del
LRG_1340t1:c.4304-25_4304-17del
LRG_1340:g.20460_20468del
NC_000023.10:g.153587539_153587547del
NC_000023.10:g.153587539_153587547delAGGGATGGC
NM_001110556.2:c.4304-25_4304-17delGCCATCCCTMANE SELECT

Links:

dbSNP: rs782740969

NCBI 1000 Genomes Browser:

rs782740969

Molecular consequence:

NM_001110556.2:c.4304-25_4304-17del - intron variant - [Sequence Ontology: SO:0001627]
NM_001456.4:c.4304-25_4304-17del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002506199	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Uncertain significance (Jan 14, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002506199

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Uncertain significance
(Jan 14, 2022)

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, SCV002506199.2

#	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.4304-25_4304-17delGCCATCCCT variant (rs782740969), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. This is an intronic variant that deletes nine nucleotides of intron 25, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, without functional studies, the effect on splicing is unknown. Due to limited information, the clinical significance of this 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: Sep 29, 2024

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