NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) AND Hypokalemic periodic paralysis, type 2

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000398742.2

Allele description [Variation Report for NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)]

NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)

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.2717G>C (p.Ser906Thr)
HGVS:
  • NC_000017.11:g.63951560C>G
  • NG_011699.1:g.26359G>C
  • NG_042788.1:g.34468C>G
  • NM_000334.4:c.2717G>CMANE SELECT
  • NP_000325.4:p.Ser906Thr
  • NP_000325.4:p.Ser906Thr
  • NC_000017.10:g.62028920C>G
Protein change:
S906T
Links:
dbSNP: rs41280102
NCBI 1000 Genomes Browser:
rs41280102
Molecular consequence:
  • NM_000334.4:c.2717G>C - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000405175Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel.

Kuzmenkin A, Jurkat-Rott K, Lehmann-Horn F, Mitrovic N.

Pflugers Arch. 2003 Oct;447(1):71-7. Epub 2003 Jul 26.

PubMed [citation]
PMID:
12898257

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000405175.3

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Nov 27, 2021

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