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NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) AND Heterotopia, periventricular, X-linked dominant

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 6, 2013
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:
RCV000170400.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.1061_1065del (p.His354fs)]

NM_001110556.2(FLNA):c.1061_1065del (p.His354fs)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs)
HGVS:
  • NC_000023.11:g.154366562_154366566del
  • NG_011506.2:g.13073_13077del
  • NM_001110556.2:c.1061_1065delMANE SELECT
  • NM_001456.4:c.1061_1065del
  • NP_001104026.1:p.His354fs
  • NP_001447.2:p.His354fs
  • LRG_1340t1:c.1061_1065del
  • LRG_1340:g.13073_13077del
  • LRG_1340p1:p.His354fs
  • NC_000023.10:g.153594930_153594934del
  • NM_001110556.1:c.1061_1065delATAAG
Protein change:
H354fs
Links:
dbSNP: rs786205180
NCBI 1000 Genomes Browser:
rs786205180
Molecular consequence:
  • NM_001110556.2:c.1061_1065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001456.4:c.1061_1065del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000222823Claritas Genomics
criteria provided, single submitter

(ACMG Guidelines, 2007)
Likely pathogenic
(Jun 6, 2013)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Claritas Genomics, SCV000222823.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024