U.S. flag

An official website of the United States government

NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 14, 2022
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:
RCV002243546.5

Allele description [Variation Report for NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp)]

NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp)

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.2903C>A (p.Ala968Asp)
HGVS:
  • NC_000017.11:g.63949479G>T
  • NG_011699.1:g.28440C>A
  • NG_042788.1:g.32387G>T
  • NM_000334.4:c.2903C>AMANE SELECT
  • NP_000325.4:p.Ala968Asp
  • NC_000017.10:g.62026839G>T
Protein change:
A968D
Links:
dbSNP: rs757322725
NCBI 1000 Genomes Browser:
rs757322725
Molecular consequence:
  • NM_000334.4:c.2903C>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002512222Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 14, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512222.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2 moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024