NM_002977.3(SCN9A):c.2794A>C (p.Met932Leu) AND Congenital Indifference to Pain

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000399125.1

Allele description

NM_002977.3(SCN9A):c.2794A>C (p.Met932Leu)

Genes:
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
LOC101929680:uncharacterized LOC101929680 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_002977.3(SCN9A):c.2794A>C (p.Met932Leu)
HGVS:
  • NC_000002.12:g.166277030T>G
  • NG_012798.1:g.103958A>C
  • NM_002977.3:c.2794A>C
  • NP_002968.1:p.Met932Leu
  • LRG_369t1:c.2794A>C
  • LRG_369:g.103958A>C
  • LRG_369p1:p.Met932Leu
  • NC_000002.11:g.167133540T>G
Protein change:
M932L; MET932LEU
Links:
OMIM: 603415.0025; dbSNP: rs12478318
GMAF:
0.0334(G), 12478318
NCBI 1000 Genomes Browser:
rs12478318
Allele Frequency:
0.0034, GO-ESP
Molecular consequence:
  • NM_002977.3:c.2794A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital Indifference to Pain
Identifiers:
MedGen: C0002768

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000418557Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.

Yuan R, Zhang X, Deng Q, Si D, Wu Y, Gao F, Zhou B.

Pain Med. 2011 Oct;12(10):1510-4. doi: 10.1111/j.1526-4637.2011.01237.x. Epub 2011 Sep 21.

PubMed [citation]
PMID:
21939494

[Association between mutations of SCN9A gene and pain related to Parkinsonism].

Zhang LM, Chen YQ, Li WJ, Sun W, Huang Y, Zou HQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):17-20. doi: 10.3760/cma.j.issn.1003-9406.2013.01.005. Chinese.

PubMed [citation]
PMID:
23450472

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000418557.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 3, 2018