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NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys) AND Cardiomyopathy

Germline classification:
Uncertain significance (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:
RCV000201481.2

Allele description [Variation Report for NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys)]

NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys)

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.3689A>G (p.Tyr1230Cys)
HGVS:
  • NC_000007.14:g.128845154A>G
  • NG_011807.1:g.19726A>G
  • NM_001127487.2:c.3689A>G
  • NM_001458.5:c.3689A>GMANE SELECT
  • NP_001120959.1:p.Tyr1230Cys
  • NP_001449.3:p.Tyr1230Cys
  • NP_001449.3:p.Tyr1230Cys
  • LRG_870t1:c.3689A>G
  • LRG_870:g.19726A>G
  • LRG_870p1:p.Tyr1230Cys
  • NC_000007.13:g.128485208A>G
  • NM_001458.4:c.3689A>G
Protein change:
Y1230C
Links:
dbSNP: rs863225116
NCBI 1000 Genomes Browser:
rs863225116
Molecular consequence:
  • NM_001127487.2:c.3689A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.3689A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256192Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)
criteria provided, single submitter

(LGCM Criteria August 2015)		Uncertain significancegermlineclinical testing

LGCM_Criteria_August_2015

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256192.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024