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NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 14, 2017
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:
RCV000576411.6

Allele description [Variation Report for NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)]

NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)

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.4539C>A (p.Ile1513=)
HGVS:
  • NC_000017.11:g.63941743G>T
  • NG_011699.1:g.36176C>A
  • NG_042788.1:g.24651G>T
  • NM_000334.4:c.4539C>AMANE SELECT
  • NP_000325.4:p.Ile1513=
  • NC_000017.10:g.62019103G>T
  • NP_000325.4:p.(=)
  • p.Ile1513Ile
Links:
dbSNP: rs56342400
NCBI 1000 Genomes Browser:
rs56342400
Molecular consequence:
  • NM_000334.4:c.4539C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Potassium-aggravated myotonia
Synonyms:
SODIUM CHANNEL MUSCLE DISEASE; Myotonia congenita, atypical; Myotonia congenita, acetazolamide-responsive
Identifiers:
MONDO: MONDO:0018959; MedGen: C2931826; Orphanet: 612; Orphanet: 99734; Orphanet: 99735; Orphanet: 99736; OMIM: 608390
Name:
Paramyotonia congenita of Von Eulenburg
Synonyms:
Paramyotonia congenita; Paralysis periodica paramyotonica; Eulenburg disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008195; MedGen: C0221055; Orphanet: 684; OMIM: 168300
Name:
Hypokalemic periodic paralysis, type 2 (HOKPP2)
Identifiers:
MONDO: MONDO:0013234; MedGen: C2750061; Orphanet: 681; OMIM: 613345
Name:
Familial hyperkalemic periodic paralysis
Synonyms:
Hyperkalemic periodic paralysis; Gamstorp episodic adynamy; Gamstorp disease
Identifiers:
MONDO: MONDO:0008224; MedGen: C0238357; Orphanet: 682; OMIM: 170500; Human Phenotype Ontology: HP:0007215
Name:
Congenital myasthenic syndrome 16
Synonyms:
Congenital myasthenic syndrome, acetazolamide-responsive
Identifiers:
MONDO: MONDO:0013620; MedGen: C3280112; Orphanet: 590; OMIM: 614198

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000677470Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Apr 14, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000677470.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024