NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg) AND Heterotopia, periventricular, X-linked dominant

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2020
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:: RCV001527616.10

Allele description [Variation Report for NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg)]

NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg)

HGVS:

NC_000023.11:g.154371112T>C
NG_008677.1:g.1685T>C
NG_011506.2:g.8527A>G
NM_001110556.2:c.134A>GMANE SELECT
NM_001456.4:c.134A>G
NP_001104026.1:p.Gln45Arg
NP_001447.2:p.Gln45Arg
NP_001447.2:p.Gln45Arg
LRG_1340t1:c.134A>G
LRG_1340:g.8527A>G
LRG_1340p1:p.Gln45Arg
LRG_745:g.1685T>C
NC_000023.10:g.153599480T>C
NM_001456.3:c.134A>G

Protein change:

Q45R

Links:

dbSNP: rs398123613

NCBI 1000 Genomes Browser:

rs398123613

Molecular consequence:

NM_001110556.2:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.134A>G - 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

Recent activity

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disintegrin and metalloproteinase domain-containing protein 21 preproprotein [Mu...
disintegrin and metalloproteinase domain-containing protein 21 preproprotein [Mus musculus]
gi|9966766|ref|NP_065063.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001738726	Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	no assertion criteria provided	Likely pathogenic (Jan 1, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001738726

Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

no assertion criteria provided

Likely pathogenic
(Jan 1, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001738726.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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