NM_000334.4(SCN4A):c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer) AND SCN4A-related non-dystrophic myotonia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 6, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002267664.1

Allele description [Variation Report for NM_000334.4(SCN4A):c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer)]

NM_000334.4(SCN4A):c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer)

Genes:

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

Variant type:

Indel

Cytogenetic location:

17q23.3

Genomic location:

Preferred name:

NM_000334.4(SCN4A):c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer)

HGVS:

NC_000017.11:g.63941154_63941162delinsACA
NG_011699.1:g.36757_36765delinsTGT
NG_042788.1:g.24062_24070delinsACA
NM_000334.4:c.5120_5128delinsTGTMANE SELECT
NP_000325.4:p.Ala1707_Pro1710delinsValSer
NC_000017.10:g.62018514_62018522delinsACA

Links:

dbSNP: rs2144773503

NCBI 1000 Genomes Browser:

rs2144773503

Molecular consequence:

NM_000334.4:c.5120_5128delinsTGT - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: SCN4A-related non-dystrophic myotonia
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002549802	Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	no assertion criteria provided	Likely pathogenic (Apr 6, 2022)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002549802

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

no assertion criteria provided

Likely pathogenic
(Apr 6, 2022)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, SCV002549802.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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