Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

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

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Oct 30, 2021)
Last evaluated:
Jan 5, 2021
Accession:
VCV000585344.8
Variation ID:
585344
Description:
single nucleotide variant
Help

NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)

Allele ID
577180
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17406748 (GRCh38) GRCh38 UCSC
11: 17428295 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17406748G>A
NG_008867.1:g.75155C>T
NM_000352.6:c.3203C>T MANE Select NP_000343.2:p.Thr1068Met missense
... more HGVS
Protein change
T1068M, T1069M, T1067M, T1090M
Other names
-
Canonical SPDI
NC_000011.10:17406747:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00116
Exome Aggregation Consortium (ExAC) 0.00034
The Genome Aggregation Database (gnomAD) 0.00102
The Genome Aggregation Database (gnomAD), exomes 0.00022
1000 Genomes Project 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00128
Links
dbSNP: rs139524121
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001104124.1
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001104429.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jan 5, 2021 RCV000710379.6
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 28, 2019 RCV000988490.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCC8 - - GRCh38
GRCh37
1052 1121

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 08, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840589.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Hyperinsulinemic hypoglycemia, familial, 1
Allele origin: unknown
Mendelics
Accession: SCV001138232.1
Submitted: (Oct 22, 2019)
Evidence details
Likely 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: SCV001260963.1
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: SCV001260964.1
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: SCV001261295.1
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
(Oct 31, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001019604.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001988336.1
Submitted: (Oct 30, 2021)
Evidence details
Comment:
Reported in a patient with obesity in published literature; however this patient was noted to have a different molecular cause for the phenotype (Foucan et … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children. Foucan L The Journal of clinical endocrinology and metabolism 2018 PMID: 29216354

Text-mined citations for rs139524121...

Help
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 Nov 06, 2021