NM_000334.4(SCN4A):c.5215C>T (p.Arg1739Cys) AND Hypokalemic periodic paralysis, type 2

Germline classification:: Uncertain significance (1 submission)
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:: RCV003234844.2

Allele description [Variation Report for NM_000334.4(SCN4A):c.5215C>T (p.Arg1739Cys)]

NM_000334.4(SCN4A):c.5215C>T (p.Arg1739Cys)

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.5215C>T (p.Arg1739Cys)

HGVS:

NC_000017.11:g.63941067G>A
NG_011699.1:g.36852C>T
NG_042788.1:g.23975G>A
NM_000334.4:c.5215C>TMANE SELECT
NP_000325.4:p.Arg1739Cys
NC_000017.10:g.62018427G>A

Protein change:

R1739C

Molecular consequence:

NM_000334.4:c.5215C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypokalemic periodic paralysis, type 2 (HOKPP2)
Identifiers:: MONDO: MONDO:0013234; MedGen: C2750061; Orphanet: 681; OMIM: 613345

Recent activity

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Donax semigranosus gene for 28S ribosomal RNA, partial sequence, specimen_vouche...
Donax semigranosus gene for 28S ribosomal RNA, partial sequence, specimen_voucher: NSMT:Mo77392
gi|670451407|dbj|AB746856.1|

Nucleotide
PREDICTED: Rattus norvegicus spectrin, beta, non-erythrocytic 4 (Sptbn4), transc...
PREDICTED: Rattus norvegicus spectrin, beta, non-erythrocytic 4 (Sptbn4), transcript variant X7, mRNA
gi|2678866174|ref|XM_063261472.1|

Nucleotide
Chain A, Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial
Chain A, Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial
gi|673541868|pdb|4QKB|A

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003932811	Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003932811

Dr. med. U. Finckh, Human Genetics, Eurofins MVZ

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Dr. med. U. Finckh, Human Genetics, Eurofins MVZ, SCV003932811.1

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

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

Last Updated: May 7, 2024

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