NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala) AND Frontometaphyseal dysplasia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 5, 2018
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:: RCV000012523.28

Allele description [Variation Report for NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala)]

NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala)

HGVS:

NC_000023.11:g.154360319T>G
NG_011506.2:g.19320A>C
NM_001110556.2:c.3476A>CMANE SELECT
NM_001456.4:c.3476A>C
NP_001104026.1:p.Asp1159Ala
NP_001447.2:p.Asp1159Ala
LRG_1340t1:c.3476A>C
LRG_1340:g.19320A>C
LRG_1340p1:p.Asp1159Ala
NC_000023.10:g.153588687T>G
P21333:p.Asp1159Ala

Protein change:

D1159A; ASP1159ALA

Links:

UniProtKB: P21333#VAR_015702; OMIM: 300017.0011; dbSNP: rs28935471

NCBI 1000 Genomes Browser:

rs28935471

Molecular consequence:

NM_001110556.2:c.3476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.3476A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Frontometaphyseal dysplasia 1 (FMD1)
Identifiers:: MONDO: MONDO:0024550; MedGen: C4281559; Orphanet: 1826; OMIM: 305620

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032757	OMIM	no assertion criteria provided	Pathogenic (Jan 5, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032757

OMIM

no assertion criteria provided

Pathogenic
(Jan 5, 2018)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Filamin A: phenotypic diversity.

Robertson SP.

Curr Opin Genet Dev. 2005 Jun;15(3):301-7. Review.

PubMed [citation]

PMID:: 15917206

Details of each submission

From OMIM, SCV000032757.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 affected members of a family, Robertson et al. (2003) found that frontometaphyseal dysplasia (FMD1; 305620) was related to a 3476A-C transversion in exon 22 of the FLNA gene, predicted to result in an asp1159-to-ala (D1159A) amino acid change.

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

Last Updated: Apr 23, 2022

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