NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) AND Indifference to pain, congenital, autosomal recessive

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001134342.1

Allele description [Variation Report for NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)]

NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)

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.5945A>T (p.Asp1982Val)
HGVS:
  • NC_000002.12:g.166198694T>A
  • NG_012798.1:g.182294A>T
  • NM_001365536.1:c.5945A>TMANE SELECT
  • NM_002977.3:c.5912A>T
  • NP_001352465.1:p.Asp1982Val
  • NP_002968.1:p.Asp1971Val
  • LRG_369t1:c.5912A>T
  • LRG_369:g.182294A>T
  • LRG_369p1:p.Asp1971Val
  • NC_000002.11:g.167055204T>A
  • p.Asp1971Val
Protein change:
D1971V
Links:
dbSNP: rs199822303
NCBI 1000 Genomes Browser:
rs199822303
Molecular consequence:
  • NM_001365536.1:c.5945A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.3:c.5912A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001294080Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001294080.1

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

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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 2, 2021

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