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 by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Benign
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 8
- First in ClinVar:
- Jul 6, 2014
- Most recent Submission:
- May 16, 2022
- Last evaluated:
- Dec 19, 2021
- Accession:
- VCV000130383.15
- Variation ID:
- 130383
- Description:
- single nucleotide variant
Help
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=)
- Allele ID
- 135830
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 12q13.2
- Genomic location
- 12: 56004670 (GRCh38) GRCh38 UCSC
- 12: 56398454 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001032386.2:c.1281G>C MANE Select NP_001027558.1:p.Ser427= synonymous NM_000456.3:c.1281G>C NP_000447.2:p.Ser427= synonymous NM_001032387.2:c.1281G>C NP_001027559.1:p.Ser427= synonymous NC_000012.12:g.56004670G>C NC_000012.11:g.56398454G>C NG_008136.1:g.12412G>C - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000012.12:56004669:G:C
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- 0.23682 (G)
- Allele frequency
- Trans-Omics for Precision Medicine (TOPMed) 0.74491
- NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.73581
- Trans-Omics for Precision Medicine (TOPMed) 0.75073
- 1000 Genomes Project 0.75220
- Links
- ClinGen: CA155308
- dbSNP: rs773115
- VarSome
Help
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 | Dec 3, 2021 | RCV000118423.9 | |
| Benign | 5 | criteria provided, multiple submitters, no conflicts | Dec 19, 2021 | RCV000363638.13 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics,PreventionGenetics
Accession: SCV000304397.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
|
|
Benign
(Jan 13, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Sulfite oxidase deficiency
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services,Illumina
Accession: SCV000380316.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
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)
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 by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
|
Benign
(Dec 03, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002051339.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
|
|
|
Benign
(Jul 15, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Sulfite oxidase deficiency
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002062299.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
|
|
|
Benign
(Dec 19, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Sulfite oxidase deficiency
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001724465.2
First in ClinVar: Jun 15, 2021 Last updated: May 16, 2022 |
|
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
AllHighlyPenetrant
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
Genetic Services Laboratory,University of Chicago
Accession: SCV000152828.2
First in ClinVar: May 17, 2014 Last updated: Jul 06, 2014 |
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. (less)
|
|
|
Benign
(Jan 23, 2017)
|
no assertion criteria provided
Method: clinical testing
|
Sulfite oxidase deficiency
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745691.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Sulfite oxidase deficiency
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733183.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
Functional evidence
Help| 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
Help| 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 rs773115...
HelpThese 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 Jan 21, 2023