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NM_004588.5(SCN2B):c.639C>T (p.Gly213=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 15, 2020
Accession:
VCV001096955.1
Variation ID:
1096955
Description:
single nucleotide variant
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NM_004588.5(SCN2B):c.639C>T (p.Gly213=)

Allele ID
1077895
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 118166896 (GRCh38) GRCh38 UCSC
11: 118037611 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.118166896G>A
NC_000011.9:g.118037611G>A
NG_042217.1:g.14727C>T
NM_004588.5:c.639C>T MANE Select NP_004579.1:p.Gly213= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:118166895:G:A
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 benign 1 criteria provided, single submitter Nov 15, 2020 RCV001418368.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN2B - - GRCh38
GRCh37
76 104

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 15, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 14
Allele origin: germline
Invitae
Accession: SCV001620594.1
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.

Record last updated Oct 08, 2021