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_000208.4(INSR):c.3775G>A (p.Asp1259Asn)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 31, 2018
Accession:
VCV000435517.3
Variation ID:
435517
Description:
single nucleotide variant
Help

NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)

Allele ID
430269
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7119468 (GRCh38) GRCh38 UCSC
19: 7119479 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7119468C>T
NC_000019.9:g.7119479C>T
NG_008852.2:g.179533G>A
... more HGVS
Protein change
D1259N, D1247N
Other names
-
Canonical SPDI
NC_000019.10:7119467:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00008
Links
ClinGen: CA9135155
dbSNP: rs369102740
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 30, 2016 RCV000503966.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765477.1
Uncertain significance 1 criteria provided, single submitter Jun 2, 2017 RCV001302076.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 30, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000595252.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Leprechaunism syndrome
Pineal hyperplasia AND diabetes mellitus syndrome
Hyperinsulinemic hypoglycemia familial 5
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896768.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001491269.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with asparagine at codon 1259 of the INSR protein (p.Asp1259Asn). The aspartic acid residue is moderately conserved and there … (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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs369102740...

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 27, 2021