NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 12, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000221213.1

Allele description [Variation Report for NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)]

NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)

Gene:
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
HGVS:
  • NC_000007.14:g.128842854T>C
  • NG_011807.1:g.17426T>C
  • NM_001127487.2:c.2450T>C
  • NM_001458.4:c.2450T>C
  • NM_001458.5:c.2450T>CMANE SELECT
  • NP_001120959.1:p.Ile817Thr
  • NP_001449.3:p.Ile817Thr
  • NP_001449.3:p.Ile817Thr
  • LRG_870t1:c.2450T>C
  • LRG_870:g.17426T>C
  • LRG_870p1:p.Ile817Thr
  • NC_000007.13:g.128482908T>C
Protein change:
I817T
Links:
dbSNP: rs200653747
NCBI 1000 Genomes Browser:
rs200653747
Molecular consequence:
  • NM_001127487.2:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000271789Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 12, 2014)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, et al.

Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27.

PubMed [citation]
PMID:
21620354
PMCID:
PMC3113346

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000271789.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The c.2450T>C variant in FLNC has not been reported in the literature nor previo usly identified by our laboratory. The c.2450T>C has been identified in 2/4306 o f African American chromosomes by the NHLBI Exome Sequencing Project (http://evs .gs.washington.edu/EVS) though this frequency is not high enough to rule out a p athogenic role given the later onset of disease. Computational analyses suggest that the Ile817Thr variant in FLNC may impact the protein, though this informati on is not predictive enough to determine pathogenicity. In summary, additional d ata is needed to determine the clinical significance of this variant.

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

Last Updated: Nov 27, 2021

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