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NM_001032386.2(SUOX):c.1281G>C (p.Ser427=)

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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
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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
Nucleotide Protein Molecular
consequence
NM_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
... more HGVS
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
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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 Dec 3, 2021 RCV000118423.9
Benign 5 criteria provided, multiple submitters, no conflicts Dec 19, 2021 RCV000363638.13
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SUOX - - GRCh38
GRCh37
262 276

Submitted interpretations and evidence

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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)
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)
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

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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 rs773115...

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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 Jan 21, 2023