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NM_000352.6(ABCC8):c.423G>A (p.Val141=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000157702.6
Variation ID:
157702
Description:
single nucleotide variant
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NM_000352.6(ABCC8):c.423G>A (p.Val141=)

Allele ID
167550
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17463594 (GRCh38) GRCh38 UCSC
11: 17485141 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17463594C>T
NC_000011.9:g.17485141C>T
NM_000352.6:c.423G>A MANE Select NP_000343.2:p.Val141= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17463593:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01418 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00485
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00963
Trans-Omics for Precision Medicine (TOPMed) 0.01029
1000 Genomes Project 0.01418
Exome Aggregation Consortium (ExAC) 0.00724
The Genome Aggregation Database (gnomAD) 0.00796
Links
ClinGen: CA171082
dbSNP: rs116132921
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 2 criteria provided, multiple submitters, no conflicts Oct 29, 2013 RCV000145000.3
Benign 2 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000710387.4
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000277787.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000297828.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000370073.2
Hereditary hyperinsulinism
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001272246.1
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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
972 1035

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 29, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
(Autosomal unknown)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000192036.1
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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000303810.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Sep 08, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840597.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
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: SCV000369409.3
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: SCV000369407.3
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)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperinsulinemic hypoglycemia, familial, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369408.3
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 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001012343.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Hereditary hyperinsulinism
Allele origin: germline
Natera, Inc.
Accession: SCV001454048.1
Submitted: (Dec 28, 2020)
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
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). Fernández-Marmiesse A Human mutation 2006 PMID: 16429405

Text-mined citations for rs116132921...

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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 Jun 23, 2021