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NM_000207.3(INS):c.*9C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 14, 2021)
Last evaluated:
Aug 2, 2017
Accession:
VCV000255531.5
Variation ID:
255531
Description:
single nucleotide variant
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NM_000207.3(INS):c.*9C>T

Allele ID
254105
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2159843 (GRCh38) GRCh38 UCSC
11: 2181073 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2159843G>A
NC_000011.9:g.2181073G>A
NG_007114.1:g.6352C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2159842:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.12680 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.16185
Trans-Omics for Precision Medicine (TOPMed) 0.16318
The Genome Aggregation Database (gnomAD), exomes 0.17279
1000 Genomes Project 0.12680
Exome Aggregation Consortium (ExAC) 0.18924
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.17816
Links
ClinGen: CA5818121
dbSNP: rs3842752
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 Aug 2, 2017 RCV000249051.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000289877.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000344882.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000402726.2
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001103214.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001651115.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
INS No evidence available No evidence available GRCh38
GRCh37
7 129
INS-IGF2 - - - GRCh38
GRCh37
- 157
TH - - GRCh38
GRCh37
506 550

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: SCV000302987.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Maturity Onset Diabetes of the Young
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369876.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (1)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Transient Neonatal Diabetes, Dominant/Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369875.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (1)
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Tyrosine Hydroxylase Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483260.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 02, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613771.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Maturity-onset diabetes of the young, type 10
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259940.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001863244.1
Submitted: (Sep 14, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 12610512, 14551916)

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
Polymorphism of the insulin gene is associated with increased prostate cancer risk. Ho GY British journal of cancer 2003 PMID: 12610512

Text-mined citations for rs3842752...

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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 Nov 20, 2021