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NM_057176.3(BSND):c.-70C>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3
First in ClinVar:
May 31, 2020
Most recent Submission:
Sep 8, 2021
Last evaluated:
Jul 10, 2021
Accession:
VCV000297674.8
Variation ID:
297674
Description:
single nucleotide variant
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NM_057176.3(BSND):c.-70C>G

Allele ID
281402
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p32.3
Genomic location
1: 54999117 (GRCh38) GRCh38 UCSC
1: 55464790 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_057176.3:c.-70C>G MANE Select 5 prime UTR
NC_000001.11:g.54999117C>G
NC_000001.10:g.55464790C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:54999116:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.40495 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.65794
Trans-Omics for Precision Medicine (TOPMed) 0.65986
The Genome Aggregation Database (gnomAD) 0.66266
1000 Genomes Project 0.59505
The Genome Aggregation Database (gnomAD) 0.67045
Links
ClinGen: CA10610485
dbSNP: rs2500341
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jul 10, 2021 RCV000320898.5
Benign 1 criteria provided, single submitter Jun 22, 2018 RCV001597043.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BSND - - GRCh38
GRCh37
233 247

Submitted interpretations and evidence

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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: SCV000358174.3
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
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Bartter disease type 4a
Affected status: no
Allele origin: germline
Genome-Nilou Lab
Accession: SCV001754863.1
First in ClinVar: Jul 24, 2021
Last updated: Jul 24, 2021
Sex: mixed
Benign
(Jun 22, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001831643.1
First in ClinVar: Sep 08, 2021
Last updated: Sep 08, 2021

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 rs2500341...

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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 Apr 25, 2022