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NM_001458.5(FLNC):c.368T>C (p.Val123Ala) AND Hypertrophic cardiomyopathy 26

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 21, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000239505.1

Allele description [Variation Report for NM_001458.5(FLNC):c.368T>C (p.Val123Ala)]

NM_001458.5(FLNC):c.368T>C (p.Val123Ala)

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.368T>C (p.Val123Ala)
HGVS:
  • NC_000007.14:g.128835341T>C
  • NG_011807.1:g.9913T>C
  • NM_001127487.2:c.368T>C
  • NM_001458.5:c.368T>CMANE SELECT
  • NP_001120959.1:p.Val123Ala
  • NP_001449.3:p.Val123Ala
  • NP_001449.3:p.Val123Ala
  • LRG_870t1:c.368T>C
  • LRG_870:g.9913T>C
  • LRG_870p1:p.Val123Ala
  • NC_000007.13:g.128475395T>C
  • NM_001458.4:c.368T>C
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
V123A; VAL123ALA
Links:
OMIM: 102565.0007; dbSNP: rs1562991002
NCBI 1000 Genomes Browser:
rs1562991002
Molecular consequence:
  • NM_001127487.2:c.368T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.368T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 26
Synonyms:
Cardiomyopathy, familial hypertrophic, 26
Identifiers:
MONDO: MONDO:0014883; MedGen: C4310749; Orphanet: 75249; OMIM: 617047

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000297923OMIM
no assertion criteria provided
Pathogenic
(Jul 21, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, Coto E, Astudillo A, Puente DA, Reguero JR, Álvarez V, Morís C, León D, Martín M, Puente XS, López-Otín C.

Nat Commun. 2014 Oct 29;5:5326. doi: 10.1038/ncomms6326.

PubMed [citation]
PMID:
25351925

Details of each submission

From OMIM, SCV000297923.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Spanish father and son with hypertrophic cardiomyopathy (CMH26; 617047), Valdes-Mas et al. (2014) identified heterozygosity for a T-C transition (chr7.128,475,395T-C, GRCh37) in the FLNC gene, resulting in a val123-to-ala (V123A) substitution at a highly conserved residue within the N-terminal actin-binding domain. Western blot analysis of transiently transfected H9C2 rat cardiomyocytes showed that the V123A mutant was detected in the insoluble fraction, with formation of actin aggregates, whereas wildtype FLNC was exclusively present in the insoluble fraction.

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

Last Updated: Jun 24, 2023