NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) AND Larsen syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 1, 2007
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:: RCV000030662.8

Allele description [Variation Report for NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)]

NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)

Gene:

FLNB:filamin B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

Preferred name:

NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)

HGVS:

NC_000003.12:g.58081668G>A
NG_012801.1:g.78269G>A
NM_001164317.2:c.679G>A
NM_001164318.2:c.679G>A
NM_001164319.2:c.679G>A
NM_001457.4:c.679G>AMANE SELECT
NP_001157789.1:p.Glu227Lys
NP_001157790.1:p.Glu227Lys
NP_001157791.1:p.Glu227Lys
NP_001448.2:p.Glu227Lys
NC_000003.11:g.58067395G>A
NM_001457.2:c.679G>A
NM_001457.3:c.679G>A
O75369:p.Glu227Lys

Protein change:

E227K; GLU227LYS

Links:

UniProtKB: O75369#VAR_033075; OMIM: 603381.0011; dbSNP: rs80356508

NCBI 1000 Genomes Browser:

rs80356508

Molecular consequence:

NM_001164317.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164318.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164319.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001457.4:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Larsen syndrome (LRS)
Synonyms:: Larsen syndrome, dominant type; Bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies
Identifiers:: MONDO: MONDO:0007875; MedGen: C0175778; Orphanet: 503; OMIM: 150250

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026970	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000040881	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (3) [See all records that cite these PMIDs] 16648377, 16801345, 20301736

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026970

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2007)

germline

literature only

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

SCV000040881

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (3)
[See all records that cite these PMIDs]

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
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations responsible for Larsen syndrome cluster in the FLNB protein.

Zhang D, Herring JA, Swaney SS, McClendon TB, Gao X, Browne RH, Rathjen KE, Johnston CE, Harris S, Cain NM, Wise CA.

J Med Genet. 2006 May;43(5):e24.

PubMed [citation]

PMID:: 16648377
PMCID:: PMC2564529

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, et al.

J Med Genet. 2007 Feb;44(2):89-98. Epub 2006 Jun 26.

PubMed [citation]

PMID:: 16801345
PMCID:: PMC2598053

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000026970.3

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

Description

In 13 affected individuals from a large family with Larsen syndrome (LRS; 150250), Bicknell et al. (2007) identified a heterozygous 679G-A transition in the FLNB gene, resulting in a glu227-to-lys (E227K) substitution. Clinical signs and symptoms of the disorder were variable in this family, although all had the characteristic facies and most had spatulate fingers and supernumerary carpal bones.

#	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

From GeneReviews, SCV000040881.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine