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NM_001365536.1(SCN9A):c.*771_*772dup

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000331944.2
Variation ID:
331944
Description:
2bp duplication
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NM_001365536.1(SCN9A):c.*771_*772dup

Allele ID
284837
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
2q24.3
Genomic location
2: 166197899-166197900 (GRCh38) GRCh38 UCSC
2: 167054409-167054410 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_369t1:c.*771_*772dup
LRG_369:g.183087_183088dup
NM_002977.3:c.*771_*772dupAA 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:166197899:TT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
0.04673 (TTTT)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.07369
1000 Genomes Project 0.04673
Trans-Omics for Precision Medicine (TOPMed) 0.06888
Links
ClinGen: CA10612519
dbSNP: rs144515054
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000293873.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000299664.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000348745.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000403917.2
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Small Fiber Neuropathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000418182.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Inherited Erythromelalgia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000418181.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital Indifference to Pain
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000418180.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Paroxysmal Extreme Pain Disorder
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000418183.2
Submitted: (Oct 18, 2016)
Evidence details

Functional evidence

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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

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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 rs144515054...

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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