NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Dec 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000865153.3

Allele description [Variation Report for NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)]

NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)

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.3020G>A (p.Arg1007His)
HGVS:
  • NC_000002.12:g.166272730C>T
  • NG_012798.1:g.108258G>A
  • NM_001365536.1:c.3020G>AMANE SELECT
  • NM_002977.3:c.2987G>A
  • NP_001352465.1:p.Arg1007His
  • NP_002968.1:p.Arg996His
  • LRG_369t1:c.2987G>A
  • LRG_369:g.108258G>A
  • LRG_369p1:p.Arg996His
  • NC_000002.11:g.167129240C>T
Protein change:
R1007H
Links:
dbSNP: rs188145203
NCBI 1000 Genomes Browser:
rs188145203
Molecular consequence:
  • NM_001365536.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.3:c.2987G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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:
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
SCV001006078Invitaecriteria provided, single submitter
Likely benign
(Dec 1, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001006078.3

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

Last Updated: Nov 27, 2021

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