NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) AND Larsen syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 1, 2004
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:: RCV000030660.6

Allele description [Variation Report for NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)]

NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)

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.482T>G (p.Phe161Cys)

HGVS:

NC_000003.12:g.58077235T>G
NG_012801.1:g.73836T>G
NM_001164317.2:c.482T>G
NM_001164318.2:c.482T>G
NM_001164319.2:c.482T>G
NM_001457.4:c.482T>GMANE SELECT
NP_001157789.1:p.Phe161Cys
NP_001157790.1:p.Phe161Cys
NP_001157791.1:p.Phe161Cys
NP_001448.2:p.Phe161Cys
NC_000003.11:g.58062962T>G
NM_001457.2:c.482T>G
NM_001457.3:c.482T>G
O75369:p.Phe161Cys

Protein change:

F161C; PHE161CYS

Links:

UniProtKB: O75369#VAR_033069; OMIM: 603381.0004; dbSNP: rs80356506

NCBI 1000 Genomes Browser:

rs80356506

Molecular consequence:

NM_001164317.2:c.482T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164318.2:c.482T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164319.2:c.482T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001457.4:c.482T>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026962	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000040870	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 14991055, 20301736

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026962

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2004)

germline

literature only

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

SCV000040870

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (2)
[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 in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, et al.

Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29.

PubMed [citation]

PMID:: 14991055

FLNB Disorders.

Robertson S.

2008 Oct 9 [updated 2020 Feb 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301736

Details of each submission

From OMIM, SCV000026962.2

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

Description

In a family with Larsen syndrome (LRS; 150250), Krakow et al. (2004) found heterozygosity for a de novo missense mutation in the FLNB gene, 482T-G in exon 2, that predicted the substitution phe161-to-cys (F161C) in the second calponin homology domain (CHD2) of filamin B.

#	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, SCV000040870.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	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: Nov 5, 2022

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