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NM_001365536.1(SCN9A):c.3204del (p.Lys1068fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000801828.1
Variation ID:
801828
Description:
1bp deletion
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NM_001365536.1(SCN9A):c.3204del (p.Lys1068fs)

Allele ID
790125
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166272546 (GRCh38) GRCh38 UCSC
2: 167129056 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.167129058del
NC_000002.12:g.166272548del
NM_001365536.1:c.3204del MANE Select NP_001352465.1:p.Lys1068fs frameshift
... more HGVS
Protein change
K1068fs, K1057fs
Other names
-
Canonical SPDI
NC_000002.12:166272545:TTT:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1574843584
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000986923.1
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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 - 1165
SCN9A - - GRCh38
GRCh37
235 1427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary sensory and autonomic neuropathy type IIA
Allele origin: unknown
Mendelics
Accession: SCV001136079.1
Submitted: (Oct 22, 2019)
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 rs1574843584...

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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 Apr 01, 2021