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NM_000335.5(SCN5A):c.5318del (p.Asn1773fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 19, 2020)
Last evaluated:
Feb 12, 2020
Accession:
VCV000927104.1
Variation ID:
927104
Description:
1bp deletion
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NM_000335.5(SCN5A):c.5318del (p.Asn1773fs)

Allele ID
909412
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 38551051 (GRCh38) GRCh38 UCSC
3: 38592542 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.38592543del
NC_000003.12:g.38551052del
NM_000335.5:c.5318del MANE Select NP_000326.2:p.Asn1773fs frameshift
... more HGVS
Protein change
N1774fs, N1720fs, N1741fs, N1756fs, N1755fs, N1773fs
Other names
-
Canonical SPDI
NC_000003.12:38551050:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 12, 2020 RCV001190118.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN5A Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2348 2600

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 12, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmia
Allele origin: germline
Color Health, Inc
Accession: SCV001357534.1
Submitted: (May 19, 2020)
Comment:
This variant deletes 1 nucleotide in exon 28 of the SCN5A gene, creating a frameshift and premature translation stop signal in the last exon. This … (more)
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.

Record last updated Feb 03, 2021