NM_000335.5(SCN5A):c.815T>C (p.Phe272Ser) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 25, 2018
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:: RCV002421427.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.815T>C (p.Phe272Ser)]

NM_000335.5(SCN5A):c.815T>C (p.Phe272Ser)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000335.5(SCN5A):c.815T>C (p.Phe272Ser)

HGVS:

NC_000003.12:g.38609853A>G
NG_008934.1:g.44820T>C
NM_000335.5:c.815T>CMANE SELECT
NM_001099404.2:c.815T>C
NM_001099405.2:c.815T>C
NM_001160160.2:c.815T>C
NM_001160161.2:c.815T>C
NM_001354701.2:c.815T>C
NM_001407185.1:c.815T>C
NM_198056.3:c.815T>C
NP_000326.2:p.Phe272Ser
NP_000326.2:p.Phe272Ser
NP_001092874.1:p.Phe272Ser
NP_001092874.1:p.Phe272Ser
NP_001092875.1:p.Phe272Ser
NP_001153632.1:p.Phe272Ser
NP_001153633.1:p.Phe272Ser
NP_001341630.1:p.Phe272Ser
NP_001394114.1:p.Phe272Ser
NP_932173.1:p.Phe272Ser
NP_932173.1:p.Phe272Ser
LRG_289t1:c.815T>C
LRG_289t2:c.815T>C
LRG_289t3:c.815T>C
LRG_289:g.44820T>C
LRG_289p1:p.Phe272Ser
LRG_289p2:p.Phe272Ser
LRG_289p3:p.Phe272Ser
NC_000003.11:g.38651344A>G
NM_000335.4:c.815T>C
NM_001099404.1:c.815T>C
NM_198056.2:c.815T>C
NR_176299.1:n.1561T>C

Protein change:

F272S

Molecular consequence:

NM_000335.5:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407185.1:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002681780	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 25, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002681780

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 25, 2018)

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, SCV002681780.2

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

Description

The p.F272S variant (also known as c.815T>C), located in coding exon 6 of the SCN5A gene, results from a T to C substitution at nucleotide position 815. The phenylalanine at codon 272 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: May 1, 2024

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