NM_001458.5(FLNC):c.1568T>C (p.Val523Ala) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 4, 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:: RCV002402376.4

Allele description [Variation Report for NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)]

NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)

Gene:

FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

Preferred name:

NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)

HGVS:

NC_000007.14:g.128840566T>C
NG_011807.1:g.15138T>C
NM_001127487.2:c.1568T>C
NM_001458.5:c.1568T>CMANE SELECT
NP_001120959.1:p.Val523Ala
NP_001449.3:p.Val523Ala
NP_001449.3:p.Val523Ala
LRG_870t1:c.1568T>C
LRG_870:g.15138T>C
LRG_870p1:p.Val523Ala
NC_000007.13:g.128480620T>C
NM_001458.4:c.1568T>C

Protein change:

V523A

Links:

dbSNP: rs182845462

NCBI 1000 Genomes Browser:

rs182845462

Molecular consequence:

NM_001127487.2:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001458.5:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002707058	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Apr 4, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28356264, 35026164 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002707058

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Apr 4, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E.

Circ Cardiovasc Genet. 2017 Apr;10(2). doi:pii: e001584. 10.1161/CIRCGENETICS.116.001584.

PubMed [citation]

PMID:: 28356264

The genetic architecture of pediatric cardiomyopathy.

Ware SM, Bhatnagar S, Dexheimer PJ, Wilkinson JD, Sridhar A, Fan X, Shen Y, Tariq M, Schubert JA, Colan SD, Shi L, Canter CE, Hsu DT, Bansal N, Webber SA, Everitt MD, Kantor PF, Rossano JW, Pahl E, Rusconi P, Lee TM, Towbin JA, et al.

Am J Hum Genet. 2022 Feb 3;109(2):282-298. doi: 10.1016/j.ajhg.2021.12.006. Epub 2022 Jan 12.

PubMed [citation]

PMID:: 35026164
PMCID:: PMC8874151

Details of each submission

From Ambry Genetics, SCV002707058.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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.

#	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: Oct 8, 2024

ClinVar

Relating variation to medicine