NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser) AND Oto-palato-digital syndrome, type II

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2022
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:: RCV002238711.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser)]

NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser)

HGVS:

NC_000023.11:g.154367679C>A
NG_011506.2:g.11960G>T
NM_001110556.2:c.682G>TMANE SELECT
NM_001456.4:c.682G>T
NP_001104026.1:p.Ala228Ser
NP_001447.2:p.Ala228Ser
LRG_1340t1:c.682G>T
LRG_1340:g.11960G>T
LRG_1340p1:p.Ala228Ser
NC_000023.10:g.153596047C>A

Protein change:

A228S

Links:

dbSNP: rs2148119164

NCBI 1000 Genomes Browser:

rs2148119164

Molecular consequence:

NM_001110556.2:c.682G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.682G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Oto-palato-digital syndrome, type II (OPD2)
Synonyms:: OPD II SYNDROME; Oto-palato-digital syndrome type 2; Andre syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010571; MedGen: C1844696; Orphanet: 669; Orphanet: 90652; OMIM: 304120

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002512055	Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 1, 2022)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002512055

Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 1, 2022)

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	2	1	not provided	not provided	yes	clinical testing

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 Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV002512055.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	yes	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: Feb 4, 2024

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