NM_001458.5(FLNC):c.2811+5G>A AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 23, 2024
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:: RCV002437000.3

Allele description [Variation Report for NM_001458.5(FLNC):c.2811+5G>A]

NM_001458.5(FLNC):c.2811+5G>A

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.2811+5G>A

HGVS:

NC_000007.14:g.128843582G>A
NG_011807.1:g.18154G>A
NM_001127487.2:c.2811+5G>A
NM_001458.5:c.2811+5G>AMANE SELECT
LRG_870t1:c.2811+5G>A
LRG_870:g.18154G>A
NC_000007.13:g.128483636G>A
NM_001458.4:c.2811+5G>A

Links:

dbSNP: rs781538211

NCBI 1000 Genomes Browser:

rs781538211

Molecular consequence:

NM_001127487.2:c.2811+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001458.5:c.2811+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Croton aubrevilecta voucher MICH:Van Ee 894 small subunit ribosomal RNA gene, pa...
Croton aubrevilecta voucher MICH:Van Ee 894 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|2129809723|gb|OL378185.1|

Nucleotide
Homologene neighbors for GEO Profiles (Select 112416174) (0)
GEO Profiles
Homologene neighbors for GEO Profiles (Select 111056220) (0)
GEO Profiles
Chromosome neighbors for GEO Profiles (Select 112386124) (20)
GEO Profiles
KLHL18 kelch like family member 18 [Homo sapiens]
KLHL18 kelch like family member 18 [Homo sapiens]
Gene ID:23276

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002752333	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002752333

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 23, 2024)

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, SCV002752333.3

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

Description

The c.2811+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 18 in the FLNC gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. 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

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