NM_001458.5(FLNC):c.1935_1937del (p.Asp646del) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 10, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003144348.4

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003833124	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 7, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004167641	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003833124

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 7, 2021)

germline

clinical testing

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

SCV004167641

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 10, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV003833124.2

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

#	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

From GeneDx, SCV004167641.1

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

Description

Reported as c.1933_1935del using alternate nomenclature in patients with left ventricular non-compaction (LVNC) in the published literature (Richard et al., 2019; Cambon-Viala et al., 2021); at least one patient harbored an additional cardiogenetic variant; In-frame deletion of one amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30471092, 34088380)

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

Last Updated: Sep 29, 2024

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