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NM_057176.3(BSND):c.*24A>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 20, 2021)
Last evaluated:
Jul 10, 2021
Accession:
VCV000297681.4
Variation ID:
297681
Description:
single nucleotide variant
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NM_057176.3(BSND):c.*24A>C

Allele ID
282935
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p32.3
Genomic location
1: 55008652 (GRCh38) GRCh38 UCSC
1: 55474325 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.55474325A>C
NC_000001.11:g.55008652A>C
NG_008965.1:g.14709A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:55008651:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.36242 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.42177
1000 Genomes Project 0.36242
The Genome Aggregation Database (gnomAD) 0.43300
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.44649
Links
ClinGen: CA871455
dbSNP: rs6682884
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 RCV000304051.3
Benign 1 criteria provided, single submitter Jun 22, 2018 RCV001541002.2
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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
181 195

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Bartter disease type 4a
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000358188.3
Submitted: (Feb 20, 2020)
Evidence details
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
(Jun 22, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001758949.1
Submitted: (Jul 20, 2021)
Evidence details
Benign
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Bartter disease type 4a
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001754914.1
Submitted: (Jul 20, 2021)
Evidence details

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 rs6682884...

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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 Sep 23, 2021