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NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2020
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:
RCV001267840.1

Allele description [Variation Report for NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)]

NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)

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.7723G>A (p.Val2575Ile)
HGVS:
  • NC_000003.12:g.58170676G>A
  • NG_012801.1:g.167277G>A
  • NM_001164317.2:c.7816G>A
  • NM_001164318.2:c.7690G>A
  • NM_001164319.2:c.7651G>A
  • NM_001457.4:c.7723G>AMANE SELECT
  • NP_001157789.1:p.Val2606Ile
  • NP_001157790.1:p.Val2564Ile
  • NP_001157791.1:p.Val2551Ile
  • NP_001448.2:p.Val2575Ile
  • NC_000003.11:g.58156403G>A
  • NM_001457.3:c.7723G>A
  • p.Val2606Ile
Protein change:
V2551I
Links:
dbSNP: rs369949841
NCBI 1000 Genomes Browser:
rs369949841
Molecular consequence:
  • NM_001164317.2:c.7816G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164318.2:c.7690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164319.2:c.7651G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001457.4:c.7723G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Atelosteogenesis type III
Synonyms:
Atelosteogenesis type 3
Identifiers:
MONDO: MONDO:0007168; MedGen: C3668942; Orphanet: 56305; OMIM: 108721
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
SCV001446312Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 13, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot 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 Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV001446312.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

A heterozygous missense variation in exon 47 of the FLNB gene that results in the amino acid substitution of Isoleucine for Valine at codon 2606 was detected. The observed variant c.7816G>A (p.Val2606Ile) has not been reported in the 1000 genomes and has a minor allele frequency of 0.004% in the gnomAD database. The in silico prediction of the variant is damaging by LRT and MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024