NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 12, 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:: RCV004026356.1

Allele description [Variation Report for NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys)]

NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys)

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.4474G>A (p.Glu1492Lys)

HGVS:

NC_000007.14:g.128847962G>A
NG_011807.1:g.22534G>A
NM_001127487.2:c.4474G>A
NM_001458.5:c.4474G>AMANE SELECT
NP_001120959.1:p.Glu1492Lys
NP_001449.3:p.Glu1492Lys
NP_001449.3:p.Glu1492Lys
LRG_870t1:c.4474G>A
LRG_870:g.22534G>A
LRG_870p1:p.Glu1492Lys
NC_000007.13:g.128488016G>A
NM_001458.4:c.4474G>A

Protein change:

E1492K

Links:

dbSNP: rs71581926

NCBI 1000 Genomes Browser:

rs71581926

Molecular consequence:

NM_001127487.2:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001458.5:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Carex sp. MA 492136 isolate spm00007666 maturase K (matK) gene, partial cds; chl...
Carex sp. MA 492136 isolate spm00007666 maturase K (matK) gene, partial cds; chloroplast
gi|1878290473|gb|MN763838.1|

Nucleotide
NADH dehydrogenase subunit F, partial (chloroplast) [Carex vulpinoidea]
NADH dehydrogenase subunit F, partial (chloroplast) [Carex vulpinoidea]
gi|807197589|gb|AKC57489.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003753170	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003753170

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 12, 2022)

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, SCV003753170.2

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

Description

The c.4474G>A (p.E1492K) alteration is located in exon 26 (coding exon 26) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 4474, causing the glutamic acid (E) at amino acid position 1492 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, 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: Nov 10, 2024

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