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NM_001458.5(FLNC):c.6036G>A (p.Glu2012=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 16, 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:
RCV003346224.2

Allele description [Variation Report for NM_001458.5(FLNC):c.6036G>A (p.Glu2012=)]

NM_001458.5(FLNC):c.6036G>A (p.Glu2012=)

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.6036G>A (p.Glu2012=)
HGVS:
  • NC_000007.14:g.128852859G>A
  • NG_011807.1:g.27431G>A
  • NM_001127487.2:c.5937G>A
  • NM_001458.5:c.6036G>AMANE SELECT
  • NP_001120959.1:p.Glu1979=
  • NP_001449.3:p.Glu2012=
  • NP_001449.3:p.Glu2012=
  • LRG_870t1:c.6036G>A
  • LRG_870:g.27431G>A
  • LRG_870p1:p.Glu2012=
  • NC_000007.13:g.128492913G>A
  • NM_001458.4:c.6036G>A
Links:
dbSNP: rs1392711485
NCBI 1000 Genomes Browser:
rs1392711485
Molecular consequence:
  • NM_001127487.2:c.5937G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001458.5:c.6036G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004051227Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 16, 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, SCV004051227.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024