NM_001458.5(FLNC):c.338del (p.Lys113fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 5, 2019
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:: RCV002451894.2

Allele description [Variation Report for NM_001458.5(FLNC):c.338del (p.Lys113fs)]

NM_001458.5(FLNC):c.338del (p.Lys113fs)

Gene:

FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q32.1

Genomic location:

Preferred name:

NM_001458.5(FLNC):c.338del (p.Lys113fs)

HGVS:

NC_000007.14:g.128830975del
NG_011807.1:g.5547del
NM_001127487.2:c.338del
NM_001458.5:c.338delMANE SELECT
NP_001120959.1:p.Lys113fs
NP_001449.3:p.Lys113Serfs
NP_001449.3:p.Lys113fs
LRG_870t1:c.338del
LRG_870:g.5547del
LRG_870p1:p.Lys113Serfs
NC_000007.13:g.128471028del
NC_000007.13:g.128471029del
NM_001458.4:c.338delA

Protein change:

K113fs

Molecular consequence:

NM_001127487.2:c.338del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001458.5:c.338del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002616941	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 5, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002616941

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 5, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002616941.2

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

Description

The c.338delA variant, located in coding exon 1 of the FLNC gene, results from a deletion of one nucleotide at nucleotide position 338, causing a translational frameshift with a predicted alternate stop codon (p.K113Sfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 1, 2024

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