NM_000334.4(SCN4A):c.5179G>A (p.Glu1727Lys) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 29, 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:: RCV004073432.1

Allele description [Variation Report for NM_000334.4(SCN4A):c.5179G>A (p.Glu1727Lys)]

NM_000334.4(SCN4A):c.5179G>A (p.Glu1727Lys)

Genes:

GH-LCR:growth hormone locus control region [Gene]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.3

Genomic location:

Preferred name:

NM_000334.4(SCN4A):c.5179G>A (p.Glu1727Lys)

HGVS:

NC_000017.11:g.63941103C>T
NG_011699.1:g.36816G>A
NG_042788.1:g.24011C>T
NM_000334.4:c.5179G>AMANE SELECT
NP_000325.4:p.Glu1727Lys
NC_000017.10:g.62018463C>T

Protein change:

E1727K

Molecular consequence:

NM_000334.4:c.5179G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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U10_09_male
U10_09_male

biosample
COL25A1 collagen type XXV alpha 1 chain [Homo sapiens]
COL25A1 collagen type XXV alpha 1 chain [Homo sapiens]
Gene ID:84570

Gene
84570[uid] AND (alive[prop]) (1)
Gene
SERPINA9 serpin family A member 9 [Homo sapiens]
SERPINA9 serpin family A member 9 [Homo sapiens]
Gene ID:327657

Gene
Gene Links for GEO Profiles (Select 108647939) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004943804	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004943804

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 29, 2023)

germline

clinical testing

Citation Link

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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, SCV004943804.1

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

Description

The c.5179G>A (p.E1727K) alteration is located in exon 24 (coding exon 24) of the SCN4A gene. This alteration results from a G to A substitution at nucleotide position 5179, causing the glutamic acid (E) at amino acid position 1727 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: Sep 29, 2024

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