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NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001535657.2

Allele description [Variation Report for NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=)]

NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=)

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.4128T>C (p.Val1376=)
HGVS:
  • NC_000002.12:g.166228769A>G
  • NG_012798.1:g.152219T>C
  • NM_001365536.1:c.4128T>CMANE SELECT
  • NM_002977.4:c.4095T>C
  • NP_001352465.1:p.Val1376=
  • NP_002968.1:p.Val1365=
  • NP_002968.1:p.Val1365=
  • NP_002968.2:p.Val1365=
  • LRG_369t1:c.4095T>C
  • LRG_369:g.152219T>C
  • LRG_369p1:p.Val1365=
  • NC_000002.11:g.167085279A>G
  • NM_002977.2:c.4095T>C
  • NM_002977.3:c.4095T>C
Links:
dbSNP: rs1413202256
NCBI 1000 Genomes Browser:
rs1413202256
Molecular consequence:
  • NM_001365536.1:c.4128T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002977.4:c.4095T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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:
Neuropathy, hereditary sensory and autonomic, type 2A (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:
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Synonyms:
ASYMBOLIA FOR PAIN; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; Indifference to pain, congenital, autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009459; MedGen: C1855739; Orphanet: 88642; Orphanet: 970; OMIM: 243000
Name:
Generalized epilepsy with febrile seizures plus
Identifiers:
MONDO: MONDO:0018214; MedGen: C3502809; OMIM: PS604233

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749711GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749711.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 03-07-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Sep 29, 2024