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NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 24, 2020
Accession:
VCV000385359.5
Variation ID:
385359
Description:
single nucleotide variant
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NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)

Allele ID
376513
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q23.3
Genomic location
17: 63972638 (GRCh38) GRCh38 UCSC
17: 62049998 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.62049998G>A
NC_000017.11:g.63972638G>A
NG_011699.1:g.5281C>T
NM_000334.4:c.204C>T MANE Select NP_000325.4:p.Tyr68= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:63972637:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00013
Exome Aggregation Consortium (ExAC) 0.00015
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA8710258
dbSNP: rs80266947
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 2, 2016 RCV000429964.1
Benign 1 criteria provided, single submitter Feb 1, 2019 RCV000874771.3
Likely benign 1 criteria provided, single submitter Oct 24, 2020 RCV001087609.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN4A - - GRCh38
GRCh37
354 1081

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 02, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000526603.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Feb 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145475.1
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Oct 24, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hyperkalemic periodic paralysis
Allele origin: germline
Invitae
Accession: SCV001016997.3
Submitted: (Jan 07, 2021)
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 rs80266947...

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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 Nov 27, 2021