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NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val) AND Larsen syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV000856788.1

Allele description [Variation Report for NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val)]

NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val)

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.4928C>T (p.Ala1643Val)
HGVS:
  • NC_000003.12:g.58138348C>T
  • NG_012801.1:g.134949C>T
  • NM_001164317.2:c.5021C>T
  • NM_001164318.2:c.4928C>T
  • NM_001164319.2:c.4928C>T
  • NM_001457.4:c.4928C>TMANE SELECT
  • NP_001157789.1:p.Ala1674Val
  • NP_001157790.1:p.Ala1643Val
  • NP_001157791.1:p.Ala1643Val
  • NP_001448.2:p.Ala1643Val
  • NC_000003.11:g.58124075C>T
  • NM_001457.3:c.4928C>T
Protein change:
A1643V
Links:
dbSNP: rs868820857
NCBI 1000 Genomes Browser:
rs868820857
Molecular consequence:
  • NM_001164317.2:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164318.2:c.4928C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164319.2:c.4928C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001457.4:c.4928C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000999346Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot provided2not providedclinical 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 Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, SCV000999346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022