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NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jul 20, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000195647.7
Variation ID:
195647
Description:
single nucleotide variant
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NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)

Allele ID
192808
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17410600 (GRCh38) GRCh38 UCSC
11: 17432147 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17410600G>A
NC_000011.9:g.17432147G>A
NM_000352.6:c.2610C>T MANE Select NP_000343.2:p.Ala870= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17410599:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00117
The Genome Aggregation Database (gnomAD), exomes 0.00062
The Genome Aggregation Database (gnomAD) 0.00118
Exome Aggregation Consortium (ExAC) 0.00076
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00131
1000 Genomes Project 0.00080
Links
ClinGen: CA242142
dbSNP: rs111967655
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 RCV000296584.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000351650.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000406499.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 1, 2020 RCV000176259.5
Hereditary hyperinsulinism
Uncertain significance 1 no assertion criteria provided Apr 10, 2020 RCV001274297.1
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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
Uncertain significance
(Dec 23, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227884.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://exac.broadinstitute.org/g…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001045103.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 01, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001759574.1
Submitted: (Jul 20, 2021)
Evidence details
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: SCV000369314.3
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Permanent neonatal diabetes mellitus 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369315.3
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperinsulinemic hypoglycemia, familial, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369316.3
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)
Uncertain significance
(Apr 10, 2020)
no assertion criteria provided
Method: clinical testing
Hereditary hyperinsulinism
Allele origin: germline
Natera, Inc.
Accession: SCV001458269.1
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.

Text-mined citations for rs111967655...

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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 Aug 17, 2021