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NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 11, 2022
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:
RCV002364334.2

Allele description [Variation Report for NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)]

NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)

Genes:
FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)
HGVS:
  • NC_000007.14:g.128854030AGC[1]
  • NG_011807.1:g.28602AGC[1]
  • NM_001127487.2:c.6442AGC[1]
  • NM_001458.5:c.6541AGC[1]MANE SELECT
  • NP_001120959.1:p.Ser2149del
  • NP_001449.3:p.Ser2182del
  • NP_001449.3:p.Ser2182del
  • LRG_870t1:c.6541_6543AGC[1]
  • LRG_870:g.28602AGC[1]
  • LRG_870p1:p.Ser2182del
  • NC_000007.13:g.128494082_128494084del
  • NC_000007.13:g.128494084AGC[1]
  • NM_001458.4:c.6541_6543AGC[1]
  • NM_001458.4:c.6544_6546delAGC
Protein change:
S2149del
Molecular consequence:
  • NM_001127487.2:c.6442AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001458.5:c.6541AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV002660871Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 11, 2022) 		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, SCV002660871.2

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

Description

The c.6544_6546delAGC variant (also known as p.S2182del) is located in coding exon 40 of the FLNC gene. This variant results from an in-frame AGC deletion at nucleotide positions 6544 to 6546. This results in the in-frame deletion of a serine at codon 2182. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, 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