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NM_001457.4(FLNB):c.502G>T (p.Gly168Cys) AND not specified

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 8, 2019
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:
RCV001002590.8

Allele description [Variation Report for NM_001457.4(FLNB):c.502G>T (p.Gly168Cys)]

NM_001457.4(FLNB):c.502G>T (p.Gly168Cys)

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.502G>T (p.Gly168Cys)
HGVS:
  • NC_000003.12:g.58077255G>T
  • NG_012801.1:g.73856G>T
  • NM_001164317.2:c.502G>T
  • NM_001164318.2:c.502G>T
  • NM_001164319.2:c.502G>T
  • NM_001457.4:c.502G>TMANE SELECT
  • NP_001157789.1:p.Gly168Cys
  • NP_001157790.1:p.Gly168Cys
  • NP_001157791.1:p.Gly168Cys
  • NP_001448.2:p.Gly168Cys
  • NC_000003.11:g.58062982G>T
Protein change:
G168C
Links:
dbSNP: rs80356504
NCBI 1000 Genomes Browser:
rs80356504
Molecular consequence:
  • NM_001164317.2:c.502G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164318.2:c.502G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164319.2:c.502G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001457.4:c.502G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001160563ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely pathogenic
(May 8, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160563.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The FLNB c.502G>T; p.Gly168Cys variant has been described in at least one individual with atelosteogenesis type III (Daniel 2012). It is absent from general population databases (Exome Variant Server and Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 168 is highly conserved in the CH2 domain, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. Additionally, other variants at this codon (c.502G>A; p.Gly168Ser and c.503G>T; p.Gly168Val) have been described in individuals affected with FLNB-related disorders, such as atelosteogenesis types I and III and Larsen syndrome (Bicknell 2007, Daniel 2012, Farrington-Rock 2006). Based on available information, the p.Gly168Cys variant is considered likely pathogenic. REFERNECES Bicknell L et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb;44(2):89-98. Daniel P et al. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat. 2012 Apr;33(4):665-73. Farrington-Rock C et al. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul;27(7):705-10.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2023