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NM_001458.5(FLNC):c.6004+2T>C AND Hypertrophic cardiomyopathy 26

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002225813.1

Allele description [Variation Report for NM_001458.5(FLNC):c.6004+2T>C]

NM_001458.5(FLNC):c.6004+2T>C

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.6004+2T>C
HGVS:
  • NC_000007.14:g.128852754T>C
  • NG_011807.1:g.27326T>C
  • NM_001127487.2:c.5905+2T>C
  • NM_001458.5:c.6004+2T>CMANE SELECT
  • LRG_870:g.27326T>C
  • NC_000007.13:g.128492808T>C
Links:
dbSNP: rs1808874360
NCBI 1000 Genomes Browser:
rs1808874360
Molecular consequence:
  • NM_001127487.2:c.5905+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001458.5:c.6004+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001984747Department of Cardiology, Liyang City Hospital of Traditional Chinese Medicine
no assertion criteria provided
Likely pathogenicmaternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Cardiology, Liyang City Hospital of Traditional Chinese Medicine, SCV001984747.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 24, 2023