NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 29, 2020
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:: RCV002436052.2

Allele description [Variation Report for NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu)]

NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu)

Gene:

SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu)

HGVS:

NC_000002.12:g.166307039G>T
NG_012798.1:g.73949C>A
NM_001365536.1:c.294C>AMANE SELECT
NM_002977.4:c.294C>A
NP_001352465.1:p.Phe98Leu
NP_002968.1:p.Phe98Leu
NP_002968.1:p.Phe98Leu
NP_002968.2:p.Phe98Leu
LRG_369t1:c.294C>A
LRG_369:g.73949C>A
LRG_369p1:p.Phe98Leu
NC_000002.11:g.167163549G>T
NM_002977.2:c.294C>A
NM_002977.3:c.294C>A

Protein change:

F98L

Links:

dbSNP: rs199824489

NCBI 1000 Genomes Browser:

rs199824489

Molecular consequence:

NM_001365536.1:c.294C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002977.4:c.294C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002749308	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 29, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002749308

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 29, 2020)

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, SCV002749308.2

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

Description

The p.F98L variant (also known as c.294C>A), located in coding exon 2 of the SCN9A gene, results from a C to A substitution at nucleotide position 294. The phenylalanine at codon 98 is replaced by leucine, an amino acid with highly similar 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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