Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001365536.1(SCN9A):c.*2744del

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
7 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000331904.2
Variation ID:
331904
Description:
1bp deletion
Help

NM_001365536.1(SCN9A):c.*2744del

Allele ID
284810
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166195928 (GRCh38) GRCh38 UCSC
2: 167052438 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_369:g.185060del
NM_002977.3:c.*2744delC 3 prime UTR
NC_000002.11:g.167052438del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:166195927:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA10612499
dbSNP: rs763459885
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000269917.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000271243.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000322694.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000328465.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000362135.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000368073.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000377051.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN1A-AS1 - - - GRCh38 - 1176
SCN9A - - GRCh38
GRCh37
236 1439

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Inherited Erythromelalgia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417901.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dravet Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417904.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Generalized Epilepsy with Febrile Seizures Plus
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417898.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Small Fiber Neuropathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417902.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Febrile Seizures
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417899.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital Indifference to Pain
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417900.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Paroxysmal Extreme Pain Disorder
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417903.2
Submitted: (Oct 18, 2016)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs763459885...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021