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NM_001458.5(FLNC):c.6043G>A (p.Val2015Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 2023
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:
RCV003353054.2

Allele description [Variation Report for NM_001458.5(FLNC):c.6043G>A (p.Val2015Met)]

NM_001458.5(FLNC):c.6043G>A (p.Val2015Met)

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.6043G>A (p.Val2015Met)
HGVS:
  • NC_000007.14:g.128852866G>A
  • NG_011807.1:g.27438G>A
  • NM_001127487.2:c.5944G>A
  • NM_001458.5:c.6043G>AMANE SELECT
  • NP_001120959.1:p.Val1982Met
  • NP_001449.3:p.Val2015Met
  • NP_001449.3:p.Val2015Met
  • LRG_870t1:c.6043G>A
  • LRG_870:g.27438G>A
  • LRG_870p1:p.Val2015Met
  • NC_000007.13:g.128492920G>A
  • NM_001458.4:c.6043G>A
Protein change:
V1982M
Links:
dbSNP: rs775231810
NCBI 1000 Genomes Browser:
rs775231810
Molecular consequence:
  • NM_001127487.2:c.5944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.6043G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004054503Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004054503.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.6043G>A (p.V2015M) alteration is located in exon 37 (coding exon 37) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 6043, causing the valine (V) at amino acid position 2015 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024