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NM_000207.3(INS):c.188-31G>A

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 1, 2021)
Last evaluated:
Dec 5, 2019
Accession:
VCV000211186.5
Variation ID:
211186
Description:
single nucleotide variant
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NM_000207.3(INS):c.188-31G>A

Allele ID
207862
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2160028 (GRCh38) GRCh38 UCSC
11: 2181258 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2160028C>T
NC_000011.9:g.2181258C>T
NG_007114.1:g.6167G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2160027:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA277088
dbSNP: rs797045623
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts May 28, 2019 RCV000193144.3
Pathogenic 3 criteria provided, multiple submitters, no conflicts Dec 5, 2019 RCV000436891.5
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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
6 128
INS-IGF2 - - - GRCh38
GRCh37
- 156

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 30, 2015)
criteria provided, single submitter
Method: clinical testing
Diabetes mellitus, permanent neonatal
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000247610.1
Submitted: (Sep 15, 2015)
Evidence details
Pathogenic
(Jun 28, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000510900.1
Submitted: (Feb 17, 2017)
Evidence details
Pathogenic
(Jan 12, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000705472.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Permanent neonatal diabetes mellitus 1
Allele origin: unknown
Mendelics
Accession: SCV001138202.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(Dec 05, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001818352.1
Submitted: (Sep 01, 2021)
Evidence details
Comment:
Published functional studies demonstrate a damaging effect; variant leads to the inclusion of 29 base pairs and an altered reading frame (Garin et al., 2012); … (more)

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=INS - - - -

Text-mined citations for rs797045623...

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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 Oct 08, 2021