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NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter) AND Primary familial dilated cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 24, 2021
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:
RCV003164441.1

Allele description [Variation Report for NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter)]

NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter)

Genes:
FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter)
HGVS:
  • NC_000007.14:g.128854427C>T
  • NG_011807.1:g.28999C>T
  • NM_001127487.2:c.6643C>T
  • NM_001458.5:c.6742C>TMANE SELECT
  • NP_001120959.1:p.Gln2215Ter
  • NP_001449.3:p.Gln2248Ter
  • NP_001449.3:p.Gln2248Ter
  • LRG_870t1:c.6742C>T
  • LRG_870:g.28999C>T
  • LRG_870p1:p.Gln2248Ter
  • NC_000007.13:g.128494481C>T
  • NM_001458.4:c.6742C>T
Protein change:
Q2215*
Molecular consequence:
  • NM_001127487.2:c.6643C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001458.5:c.6742C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Primary familial dilated cardiomyopathy (FDC)
Synonyms:
Familial dilated cardiomyopathy; Hypokinetic dilated cardiomyopathy, familial
Identifiers:
MONDO: MONDO:0016333; MedGen: C0340427; Orphanet: 217607; OMIM: PS115200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002581939Center for Human Genetics, University of Leuven
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Dec 24, 2021)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes31not 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 Center for Human Genetics, University of Leuven, SCV002581939.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided1not provided

Last Updated: Apr 6, 2024