NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln) AND Indifference to pain, congenital, autosomal recessive

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001528173.1

Allele description [Variation Report for NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)]

NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)
HGVS:
  • NC_000002.12:g.166277137C>T
  • NG_012798.1:g.103851G>A
  • NM_001365536.1:c.2720G>AMANE SELECT
  • NM_002977.3:c.2687G>A
  • NP_001352465.1:p.Arg907Gln
  • NP_002968.1:p.Arg896Gln
  • LRG_369t1:c.2687G>A
  • LRG_369:g.103851G>A
  • LRG_369p1:p.Arg896Gln
  • NC_000002.11:g.167133647C>T
  • NR_110260.1:n.919C>T
Protein change:
R896Q
Links:
dbSNP: rs1024152367
NCBI 1000 Genomes Browser:
rs1024152367
Molecular consequence:
  • NM_001365536.1:c.2720G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.3:c.2687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110260.1:n.919C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:
Indifference to pain, congenital, autosomal recessive (CIP)
Synonyms:
ASYMBOLIA FOR PAIN; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; Insensitivity to pain, channelopathy-associated
Identifiers:
MONDO: MONDO:0009459; MedGen: C1855739; Orphanet: 88642; Orphanet: 970; OMIM: 243000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001739272Neuroalgology unit, Genetics of Neuropathic Pain Laboratory,Fondazione IRCCS Istituto Neurologico Carlo Bestano assertion criteria providedPathogenicmaternal, unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownno2not providednot providednot providednot providedresearch
Europeanmaternalyes1not providednot providednot providednot providedresearch

Citations

PubMed

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.

Marchi M, Provitera V, Nolano M, Romano M, Maccora S, D'Amato I, Salvi E, Gerrits M, Santoro L, Lauria G.

J Peripher Nerv Syst. 2018 Sep;23(3):202-206. doi: 10.1111/jns.12280. Epub 2018 Jul 23.

PubMed [citation]
PMID:
29978519
PMCID:
PMC6767138

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R.

Hum Mutat. 2010 Sep;31(9):E1670-86. doi: 10.1002/humu.21325.

PubMed [citation]
PMID:
20635406
PMCID:
PMC2966863

Details of each submission

From Neuroalgology unit, Genetics of Neuropathic Pain Laboratory,Fondazione IRCCS Istituto Neurologico Carlo Besta, SCV001739272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
2European2not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided
2unknownnonot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 7, 2021

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