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NM_000208.4(INSR):c.687C>T (p.Thr229=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000211198.5
Variation ID:
211198
Description:
single nucleotide variant
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NM_000208.4(INSR):c.687C>T (p.Thr229=)

Allele ID
208639
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7184603 (GRCh38) GRCh38 UCSC
19: 7184614 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7184603G>A
NC_000019.9:g.7184614G>A
NG_008852.2:g.114398C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7184602:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00111
The Genome Aggregation Database (gnomAD) 0.00086
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00147
1000 Genomes Project 0.00160
Links
ClinGen: CA205692
dbSNP: rs150568177
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 22, 2016 RCV000192695.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000305759.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000266978.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000359250.2
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000878988.2
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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
496 509

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 22, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000247624.2
Submitted: (Oct 04, 2017)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Pineal hyperplasia AND diabetes mellitus syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000415565.3
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)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Leprechaunism syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000415567.3
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)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000415566.3
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
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001021995.2
Submitted: (Jan 29, 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.

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 rs150568177...

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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 27, 2021