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NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 31, 2021)
Last evaluated:
Aug 1, 2019
Accession:
VCV000811714.3
Variation ID:
811714
Description:
single nucleotide variant
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NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)

Allele ID
800196
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50455058 (GRCh38) GRCh38 UCSC
22: 50893487 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.50893487G>A
NC_000022.11:g.50455058G>A
NG_041810.1:g.25014C>T
... more HGVS
Protein change
R1522W, R1547W
Other names
-
Canonical SPDI
NC_000022.11:50455057:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00024
Exome Aggregation Consortium (ExAC) 0.00029
Trans-Omics for Precision Medicine (TOPMed) 0.00023
The Genome Aggregation Database (gnomAD) 0.00027
The Genome Aggregation Database (gnomAD), exomes 0.00028
Trans-Omics for Precision Medicine (TOPMed) 0.00028
Links
dbSNP: rs370182117
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 5, 2018 RCV001002004.2
Uncertain significance 1 criteria provided, single submitter Aug 1, 2019 RCV001766820.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SBF1 - - GRCh38
GRCh37
378 507

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 05, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 4B3
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001159820.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The SBF1 c.4639C>T; p.Arg1547Trp variant (rs370182117), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in … (more)
Uncertain significance
(Aug 01, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001991649.1
Submitted: (Oct 31, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our … (more)

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 rs370182117...

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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