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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 12, 2014
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:: RCV000221213.4

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_001458.5: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
NM_001458.4:c.2450T>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_001458.5:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Rab3 GTPase-activating protein catalytic protein [Arabidopsis thaliana]
Rab3 GTPase-activating protein catalytic protein [Arabidopsis thaliana]
Gene ID:835964

Gene
At.29276 AND (alive[prop]) (1)
Gene
606823 (1)
OMIM
Homo sapiens FLJ46257 protein, mRNA (cDNA clone IMAGE:40146810)
Homo sapiens FLJ46257 protein, mRNA (cDNA clone IMAGE:40146810)
gi|124376583|gb|BC132788.1|

Nucleotide
Uncharacterized protein SSP1546 [Listeria monocytogenes]
Uncharacterized protein SSP1546 [Listeria monocytogenes]
gi|441470180|emb|CCQ19935.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000271789	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Feb 12, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21620354, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000271789

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Feb 12, 2014)

germline

clinical testing

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	1	1	not provided	not provided	not provided	clinical 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, Mass General Brigham Personalized Medicine, SCV000271789.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical 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.

#	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		1	not provided	1	not provided

Last Updated: Sep 29, 2024

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