U.S. flag

An official website of the United States government

NM_001458.5(FLNC):c.6004+2T>C AND Asymmetric septal hypertrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2018
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:
RCV001251029.1

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]

Condition(s)

Name:
Asymmetric septal hypertrophy
Identifiers:
MedGen: C0205700; Human Phenotype Ontology: HP:0001670

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426422NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Likely pathogenic
(Jan 1, 2018) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001426422.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 24, 2023