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NM_001110556.2(FLNA):c.373+1G>A AND Heterotopia, periventricular, X-linked dominant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1998
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:
RCV000012516.19

Allele description [Variation Report for NM_001110556.2(FLNA):c.373+1G>A]

NM_001110556.2(FLNA):c.373+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.373+1G>A
HGVS:
  • NC_000023.11:g.154370872C>T
  • NG_008677.1:g.1445C>T
  • NG_011506.2:g.8767G>A
  • NM_001110556.2:c.373+1G>AMANE SELECT
  • NM_001456.4:c.373+1G>A
  • LRG_1340t1:c.373+1G>A
  • LRG_1340:g.8767G>A
  • LRG_745:g.1445C>T
  • NC_000023.10:g.153599240C>T
  • NG_011506.1:g.8767G>A
Note:
NCBI staff reviewed the sequence information reported in PubMed 9883725 Fig. 3d to determine the location of this allele on the current reference sequence.
Nucleotide change:
IVS2DS, G-A, +1
Links:
OMIM: 300017.0004; dbSNP: rs863223296
NCBI 1000 Genomes Browser:
rs863223296
Molecular consequence:
  • NM_001110556.2:c.373+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001456.4:c.373+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000032750OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1998) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA.

Neuron. 1998 Dec;21(6):1315-25.

PubMed [citation]
PMID:
9883725

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.

Shapiro MB, Senapathy P.

Nucleic Acids Res. 1987 Sep 11;15(17):7155-74.

PubMed [citation]
PMID:
3658675
PMCID:
PMC306199

Details of each submission

From OMIM, SCV000032750.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a sporadic case of periventricular heterotopia (PVNH1; 300049), Fox et al. (1998) found a G-to-A mutation at the first base of intron 2 of the FLN1 gene. The 'G' at position +1 of the intron is conserved in 100% of splice donor sequences of vertebrate genes (Shapiro and Senapathy, 1987).

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

Last Updated: May 26, 2024