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NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000138965.6
Variation ID:
138965
Description:
single nucleotide variant
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NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu)

Allele ID
142668
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 9832230 (GRCh38) GRCh38 UCSC
11: 9853777 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q86WG5:p.Gln1216Glu
NC_000011.10:g.9832230G>C
NG_008074.1:g.466978C>G
... more HGVS
Protein change
Q1216E, Q1173E
Other names
p.Q1216E:CAG>GAG
Canonical SPDI
NC_000011.10:9832229:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.08227 (C)

Allele frequency
1000 Genomes Project 0.08227
Exome Aggregation Consortium (ExAC) 0.09873
Trans-Omics for Precision Medicine (TOPMed) 0.08156
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.08229
The Genome Aggregation Database (gnomAD), exomes 0.09646
The Genome Aggregation Database (gnomAD) 0.08480
Trans-Omics for Precision Medicine (TOPMed) 0.07777
The Genome Aggregation Database (gnomAD) 0.07978
Links
ClinGen: CA293147
UniProtKB: Q86WG5#VAR_051768
dbSNP: rs12574508
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Jul 12, 2017 RCV000127865.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000364874.4
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001094188.1
Benign 1 criteria provided, single submitter - RCV001172813.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SBF2 - - GRCh38
GRCh37
462 962

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 17, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000171448.10
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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000314750.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jul 12, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000615012.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 4B2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000375049.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001335882.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV001000453.3
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 rs12574508...

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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 Dec 04, 2021