NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765522.1

Allele description [Variation Report for NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile)]

NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile)

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.4820C>T (p.Thr1607Ile)
HGVS:
  • NC_000002.12:g.166199819G>A
  • NG_012798.1:g.181169C>T
  • NM_001365536.1:c.4820C>TMANE SELECT
  • NM_002977.3:c.4787C>T
  • NP_001352465.1:p.Thr1607Ile
  • NP_002968.1:p.Thr1596Ile
  • LRG_369t1:c.4787C>T
  • LRG_369:g.181169C>T
  • LRG_369p1:p.Thr1596Ile
  • NC_000002.11:g.167056329G>A
Protein change:
T1596I
Links:
dbSNP: rs200470541
NCBI 1000 Genomes Browser:
rs200470541
Molecular consequence:
  • NM_001365536.1:c.4820C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.3:c.4787C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary erythromelalgia
Synonyms:
Erythermalgia, primary; SCN9A-Related Inherited Erythromelalgia
Identifiers:
MONDO: MONDO:0007571; MedGen: C0014805; Orphanet: 306577; Orphanet: 90026; OMIM: 133020
Name:
Hereditary sensory and autonomic neuropathy type IIA (HSAN2A)
Synonyms:
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; HSAN IIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024309; MedGen: C2752089; Orphanet: 970; OMIM: 201300
Name:
Paroxysmal extreme pain disorder (PEXPD)
Synonyms:
PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; RECTAL PAIN, FAMILIAL
Identifiers:
MONDO: MONDO:0008179; MedGen: C1833661; Orphanet: 46348; OMIM: 167400
Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208
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
Name:
Generalized epilepsy with febrile seizures plus, type 7 (GEFSP7)
Synonyms:
GEFS+, TYPE 7
Identifiers:
MONDO: MONDO:0013470; MedGen: C2751778; Orphanet: 36387; OMIM: 613863

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896836Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical 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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000896836.1

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

Last Updated: Oct 30, 2021

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