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NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) AND Heterotopia, periventricular, X-linked dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 2021
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:
RCV003483699.2

Allele description [Variation Report for NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val)]

NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val)
Other names:
p.Ile862Val
HGVS:
  • NC_000023.11:g.154362314T>C
  • NG_011506.2:g.17325A>G
  • NM_001110556.2:c.2584A>GMANE SELECT
  • NM_001456.4:c.2584A>G
  • NP_001104026.1:p.Ile862Val
  • NP_001447.2:p.Ile862Val
  • NP_001447.2:p.Ile862Val
  • LRG_1340t1:c.2584A>G
  • LRG_1340:g.17325A>G
  • LRG_1340p1:p.Ile862Val
  • NC_000023.10:g.153590682T>C
  • NM_001456.3:c.2584A>G
Protein change:
I862V
Links:
dbSNP: rs1557178202
NCBI 1000 Genomes Browser:
rs1557178202
Molecular consequence:
  • NM_001110556.2:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Heterotopia, periventricular, X-linked dominant (PVNH1)
Synonyms:
PERIVENTRICULAR NODULAR HETEROTOPIA 1; X-linked periventricular heterotopia; Heterotopia familial nodular; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010233; MedGen: C1848213; Orphanet: 2149; Orphanet: 82004; OMIM: 300049

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004231901Clinical Genomics Laboratory, Stanford Medicine
no assertion criteria provided
Uncertain significance
(Jun 22, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genomics Laboratory, Stanford Medicine, SCV004231901.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

The p.Ile862Val variant in the FLNA gene has not been previously reported in association with disease. The p.Ile862Val variant has been identified in 1/27,369 Latino chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org/). While this variant was present in one individual in gnomAD, this individual is female, and this variant was not observed in any males. Given the possibility of milder phenotypes as discussed above, criteria for low frequency in the general population was applied. The FLNA gene has fewer missense variants in the general population than expected. A low rate of missense variation may suggest that this gene is intolerant to missense variation. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Ile862Val variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2; PP2]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024