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.2355G>A (p.Ser785=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000211192.4
Variation ID:
211192
Description:
single nucleotide variant
Help

NM_000208.4(INSR):c.2355G>A (p.Ser785=)

Allele ID
208632
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7143003 (GRCh38) GRCh38 UCSC
19: 7143014 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7143003C>T
NC_000019.9:g.7143014C>T
NG_008852.2:g.155998G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7143002:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00275
The Genome Aggregation Database (gnomAD) 0.00277
Exome Aggregation Consortium (ExAC) 0.00069
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00300
1000 Genomes Project 0.00120
Links
ClinGen: CA208431
dbSNP: rs148137322
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 Jun 24, 2015 RCV000194326.2
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000914655.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 24, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000247617.1
Submitted: (Sep 15, 2015)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001059838.2
Submitted: (Jan 29, 2020)
Evidence details

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
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 rs148137322...

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 Oct 30, 2021