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NM_000352.6(ABCC8):c.207T>C (p.Pro69=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
15 (Most recent: Sep 14, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000157687.9
Variation ID:
157687
Description:
single nucleotide variant
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NM_000352.6(ABCC8):c.207T>C (p.Pro69=)

Allele ID
167535
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17474969 (GRCh38) GRCh38 UCSC
11: 17496516 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17474969A>G
NC_000011.9:g.17496516A>G
NG_008867.1:g.6934T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17474968:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.43930 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.47531
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.47682
Trans-Omics for Precision Medicine (TOPMed) 0.46829
Exome Aggregation Consortium (ExAC) 0.47397
1000 Genomes Project 0.43930
Links
ClinGen: CA171051
dbSNP: rs1048099
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Oct 14, 2014 RCV000144982.6
Benign 2 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000314568.3
Benign 2 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000405380.3
Benign 3 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV000576854.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000334473.2
Benign 1 criteria provided, single submitter Jul 1, 2021 RCV001533252.1
Benign 1 criteria provided, single submitter Jul 1, 2021 RCV001533269.1
Hereditary hyperinsulinism
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001272249.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCC8 - - GRCh38
GRCh37
1015 1082

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000303794.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Apr 12, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000677117.2
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Feb 07, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
(Autosomal unknown)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000192018.1
Submitted: (Sep 11, 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)
Evidence details
Benign
(Oct 14, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227104.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Permanent neonatal diabetes mellitus 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369424.3
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Transient neonatal diabetes mellitus 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369422.3
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperinsulinemic hypoglycemia, familial, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369423.3
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
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001720272.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Leucine-induced hypoglycemia
Allele origin: germline
Pars Genome Lab
Accession: SCV001749063.1
Submitted: (Jul 10, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Hyperinsulinemic hypoglycemia, familial, 1
Allele origin: germline
Pars Genome Lab
Accession: SCV001749080.1
Submitted: (Jul 10, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Transient neonatal diabetes mellitus 2
Allele origin: germline
Pars Genome Lab
Accession: SCV001749081.1
Submitted: (Jul 10, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Permanent neonatal diabetes mellitus 3
Allele origin: germline
Pars Genome Lab
Accession: SCV001749082.1
Submitted: (Jul 10, 2021)
Evidence details
Benign
(Aug 09, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001869180.1
Submitted: (Sep 14, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 21671119)
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Hereditary hyperinsulinism
Allele origin: germline
Natera, Inc.
Accession: SCV001454051.1
Submitted: (Dec 28, 2020)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001743142.3
Submitted: (Sep 02, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCC8 - - - -

Text-mined citations for rs1048099...

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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 18, 2021