NM_001458.5(FLNC):c.1935_1937del (p.Asp646del) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 28, 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:: RCV002413600.2

Allele description [Variation Report for NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)]

NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)

Gene:

FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q32.1

Genomic location:

Preferred name:

NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)

HGVS:

NC_000007.14:g.128841291_128841293del
NG_011807.1:g.15863_15865del
NM_001127487.2:c.1935_1937del
NM_001458.5:c.1935_1937delMANE SELECT
NP_001120959.1:p.Asp646del
NP_001449.3:p.Asp646del
NP_001449.3:p.Asp646del
LRG_870t1:c.1935_1937del
LRG_870:g.15863_15865del
LRG_870p1:p.Asp646del
NC_000007.13:g.128481343_128481345del
NC_000007.13:g.128481345_128481347del
NM_001458.4:c.1935_1937del
NM_001458.4:c.1935_1937delCGA

Protein change:

D646del

Links:

dbSNP: rs765300084

NCBI 1000 Genomes Browser:

rs765300084

Molecular consequence:

NM_001127487.2:c.1935_1937del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001458.5:c.1935_1937del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002717527	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 28, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002717527

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 28, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.

Richard P, Ader F, Roux M, Donal E, Eicher JC, Aoutil N, Huttin O, Selton-Suty C, Coisne D, Jondeau G, Damy T, Mansencal N, Casalta AC, Michel N, Haentjens J, Faivre L, Lavoute C, Nguyen K, Tregouët DA, Habib G, Charron P.

Clin Genet. 2019 Mar;95(3):356-367. doi: 10.1111/cge.13484. Epub 2018 Dec 27.

PubMed [citation]

PMID:: 30471092

Details of each submission

From Ambry Genetics, SCV002717527.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.1935_1937delCGA variant (also known as p.D646del) is located in coding exon 12 of the FLNC gene. This variant results from an in-frame CGA deletion at nucleotide positions 1935 to 1937. This results in the in-frame deletion of an aspartic acid at codon 646. This variant (referred to as c.1933_1935del, p.645del) was detected in a left ventricular non-compaction cohort; however, details were limited (Richard P et al. Clin. Genet., 2019 03;95:356-367). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine