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NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) AND FLNA-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004734155.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)]

NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
HGVS:
  • NC_000023.11:g.154362308C>A
  • NG_011506.2:g.17331G>T
  • NM_001110556.1:c.2590G>T
  • NM_001110556.2:c.2590G>TMANE SELECT
  • NM_001456.4:c.2590G>T
  • NP_001104026.1:p.Val864Phe
  • NP_001447.2:p.Val864Phe
  • LRG_1340t1:c.2590G>T
  • LRG_1340:g.17331G>T
  • LRG_1340p1:p.Val864Phe
  • NC_000023.10:g.153590676C>A
  • NM_001456.3:c.2590G>T
Protein change:
V864F
Links:
dbSNP: rs1557178198
NCBI 1000 Genomes Browser:
rs1557178198
Molecular consequence:
  • NM_001110556.2:c.2590G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.2590G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
FLNA-related disorder
Synonyms:
FLNA - related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005363522PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Apr 17, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005363522.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The FLNA c.2590G>T variant is predicted to result in the amino acid substitution p.Val864Phe. This variant was reported in an individual with autism spectrum disorder who was also positive for a second potentially relevant variant (Table 4, Gerges et al. 2022. PubMed ID: 35205231). This variant is not reported within an established sub-population in gnomAD, indicating it is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024