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NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) AND Primary erythromelalgia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001809733.1

Allele description [Variation Report for NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)]

NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)

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.1604C>T (p.Ser535Leu)
HGVS:
  • NC_000002.12:g.166284823G>A
  • NG_012798.1:g.96165C>T
  • NM_001365536.1:c.1604C>TMANE SELECT
  • NM_002977.4:c.1604C>T
  • NP_001352465.1:p.Ser535Leu
  • NP_002968.1:p.Ser535Leu
  • NP_002968.1:p.Ser535Leu
  • NP_002968.2:p.Ser535Leu
  • LRG_369t1:c.1604C>T
  • LRG_369:g.96165C>T
  • LRG_369p1:p.Ser535Leu
  • NC_000002.11:g.167141333G>A
  • NM_002977.2:c.1604C>T
  • NM_002977.3:c.1604C>T
Protein change:
S535L
Links:
dbSNP: rs201354321
NCBI 1000 Genomes Browser:
rs201354321
Molecular consequence:
  • NM_001365536.1:c.1604C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.4:c.1604C>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002059500Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 18, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Centogene AG - the Rare Disease Company, SCV002059500.1

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

Last Updated: Sep 29, 2024