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, single submitter
- Submissions:
- 1
- First in ClinVar:
- Dec 6, 2016
- Most recent Submission:
- May 31, 2020
- Last evaluated:
- Jan 13, 2018
- Accession:
- VCV000297672.5
- Variation ID:
- 297672
- Description:
- single nucleotide variant
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NM_057176.3(BSND):c.-156G>C
- Allele ID
- 282932
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 1p32.3
- Genomic location
- 1: 54999031 (GRCh38) GRCh38 UCSC
- 1: 55464704 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_057176.3:c.-156G>C MANE Select 5 prime UTR NC_000001.11:g.54999031G>C NC_000001.10:g.55464704G>C NG_008965.2:g.5099G>C LRG_1282:g.5099G>C LRG_1282t1:c.-156G>C - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000001.11:54999030:G:C
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- 0.00579 (C)
- Allele frequency
- The Genome Aggregation Database (gnomAD) 0.00194
- The Genome Aggregation Database (gnomAD) 0.00313
- 1000 Genomes Project 0.00579
- Trans-Omics for Precision Medicine (TOPMed) 0.00666
- Trans-Omics for Precision Medicine (TOPMed) 0.00393
- Links
- ClinGen: CA10611399
- dbSNP: rs183925883
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Benign | 1 | criteria provided, single submitter | Jan 13, 2018 | RCV000360477.5 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Benign
(Jan 13, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Bartter disease type 4A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services,Illumina
Accession: SCV000358172.3
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)
|
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 rs183925883...
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 Apr 15, 2023