NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) AND not specified

Clinical significance:Benign (Last evaluated: Apr 12, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
6 submissions [Details]
Record status:
current
Accession:
RCV000078659.12

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]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110515EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Aug 12, 2013)
germlineclinical testing

Citation Link,

SCV000152635Genetic Services Laboratory,University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV000303640PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV000520902GeneDxcriteria provided, single submitter
Benign
(Oct 19, 2016)
germlineclinical testing

Citation Link,

SCV000615073Athena Diagnostics Inccriteria provided, single submitter
Benign
(Apr 12, 2021)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV001984711Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospitalcriteria provided, single submitter
Benign
(Jan 8, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Na(v) 1.4 cause periodic paralysis.

Fan C, Mao N, Lehmann-Horn F, B├╝rmann J, Jurkat-Rott K.

Clin Genet. 2017 Jun;91(6):859-867. doi: 10.1111/cge.12880. Epub 2016 Nov 24.

PubMed [citation]
PMID:
27714768

Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.

Meola G, Cardani R.

J Neuromuscul Dis. 2015 Jul 22;2(s2):S59-S71.

PubMed [citation]
PMID:
27858759
PMCID:
PMC5240594
See all PubMed Citations (7)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110515.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Genetic Services Laboratory,University of Chicago, SCV000152635.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

From PreventionGenetics,PreventionGenetics, SCV000303640.1

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

From GeneDx, SCV000520902.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Athena Diagnostics Inc, SCV000615073.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital, SCV001984711.1

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

Last Updated: Nov 27, 2021

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