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NM_000208.4(INSR):c.1123+13G>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000330472.3
Variation ID:
330472
Description:
single nucleotide variant
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NM_000208.4(INSR):c.1123+13G>T

Allele ID
344496
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7174570 (GRCh38) GRCh38 UCSC
19: 7174581 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7174570C>A
NC_000019.9:g.7174581C>A
NG_008852.2:g.124431G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7174569:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (A)

Allele frequency
1000 Genomes Project 0.00339
Trans-Omics for Precision Medicine (TOPMed) 0.00503
The Genome Aggregation Database (gnomAD) 0.00602
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00654
The Genome Aggregation Database (gnomAD), exomes 0.00607
Exome Aggregation Consortium (ExAC) 0.00647
Links
ClinGen: CA9135922
dbSNP: rs72549236
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 12, 2018 RCV000266281.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000301246.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000358649.2
Likely benign 1 criteria provided, single submitter Jan 17, 2017 RCV000506688.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
INSR - - GRCh38
GRCh37
495 508

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 17, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604031.1
Submitted: (Jun 30, 2017)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Pineal hyperplasia AND diabetes mellitus syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000415547.3
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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000415548.3
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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Leprechaunism syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000415549.3
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)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs72549236...

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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 11, 2021