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NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) AND Heterotopia, periventricular, X-linked dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2021
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:
RCV002246005.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)]

NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)
Other names:
p.Arg1036Cys
HGVS:
  • NC_000023.11:g.154361409G>A
  • NG_011506.2:g.18230C>T
  • NM_001110556.2:c.3106C>TMANE SELECT
  • NM_001456.4:c.3106C>T
  • NP_001104026.1:p.Arg1036Cys
  • NP_001447.2:p.Arg1036Cys
  • NP_001447.2:p.Arg1036Cys
  • LRG_1340t1:c.3106C>T
  • LRG_1340:g.18230C>T
  • LRG_1340p1:p.Arg1036Cys
  • NC_000023.10:g.153589777G>A
  • NM_001110556.2:c.3106C>T
  • NM_001456.3:c.3106C>T
Protein change:
R1036C
Links:
dbSNP: rs781844419
NCBI 1000 Genomes Browser:
rs781844419
Molecular consequence:
  • NM_001110556.2:c.3106C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.3106C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002025501Centre of Medical Genetics, University of Antwerp
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 1, 2021) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

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 Centre of Medical Genetics, University of Antwerp, SCV002025501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

PM2, PP3

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

Last Updated: Nov 24, 2024