NM_001458.5(FLNC):c.7560C>T (p.Thr2520=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 11, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000786412.1

Allele description [Variation Report for NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)]

NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)

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.7560C>T (p.Thr2520=)
HGVS:
  • NC_000007.14:g.128856920C>T
  • NG_011807.1:g.31492C>T
  • NM_001127487.2:c.7461C>T
  • NM_001458.5:c.7560C>TMANE SELECT
  • NP_001120959.1:p.Thr2487=
  • NP_001449.3:p.Thr2520=
  • NP_001449.3:p.Thr2520=
  • LRG_870t1:c.7560C>T
  • LRG_870:g.31492C>T
  • LRG_870p1:p.Thr2520=
  • NC_000007.13:g.128496974C>T
  • NM_001458.4:c.7560C>T
Links:
dbSNP: rs527921534
NCBI 1000 Genomes Browser:
rs527921534
Molecular consequence:
  • NM_001127487.2:c.7461C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001458.5:c.7560C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000925230Stanford Center for Inherited Cardiovascular Disease, Stanford Universityno assertion criteria providedUncertain significance
(Sep 11, 2017)
germlineprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000925230.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

c.7560C>T (silent, splice region) in exon 45 of the FLNC gene (NM_001458.4; chr7-128496974-C-T) SCICD classification: variant of uncertain significance based on lack of case data. However, this variant is relatively prevalent in some ethnic populations. We do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). Gene-level evidence: Both missense and truncating variants in FLNC have been reported in various cardiomyopathies (Ortiz-Genga et al. 2016; Valdes-Mas et al 2014). Variant type: Missense. Case data: · ClinVar: not present · Cases in the literature: none reported Functional data: none reported. In silico models (for missense variants only): not applicable Splicing algorithms: Per the test report, "Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies." Conservation data: The thymine at position 7560 in the cDNA is completely conserved across species, as are neighboring nucleotides. Other variants associated with disease at this nucleotide: none Population data: MAF=0.02% in East Asians: · The variant was reported online in 8 of 137,599 individuals in the Genome Aggregation Consortium Dataset (gnomAD; http://gnomad.broadinstitute.org/), which currently includes variant calls on >140,000 unrelated individuals of African, Asian, European, Ashkenazi, Latino descent. Specifically, the variant was observed in 4 of 9,414 individuals of East Asian descent (MAF=0.02%), 3 of 15,367 individuals of South Asian descent and 1 of 62,589 individuals of European descent. The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease.

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

Last Updated: Dec 4, 2021

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