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NM_001110556.2(FLNA):c.987+1G>A AND FLNA-related disorder

Germline classification:
Likely pathogenic (1 submission)
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:
RCV004545753.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.987+1G>A]

NM_001110556.2(FLNA):c.987+1G>A

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.987+1G>A
HGVS:
  • NC_000023.11:g.154366731C>T
  • NG_011506.2:g.12908G>A
  • NM_001110556.2:c.987+1G>AMANE SELECT
  • NM_001456.4:c.987+1G>A
  • LRG_1340t1:c.987+1G>A
  • LRG_1340:g.12908G>A
  • NC_000023.10:g.153595099C>T
  • NM_001110556.1:c.987+1G>A
Links:
dbSNP: rs786205204
NCBI 1000 Genomes Browser:
rs786205204
Molecular consequence:
  • NM_001110556.2:c.987+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001456.4:c.987+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004046381Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV004046381.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant affects the canonical splice donor site of intron 6 and is therefore predicted to interfere with splicing and result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. A different nucleotide change (c.987G>C) affecting the same donor-splicing site has been described in a mother and daughter with bilateral periventricular nodular heterotopia (PMID: 18427995). It is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.987+1G>A variant is classified as Likely Pathogenic.

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

Last Updated: Nov 3, 2024