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NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT AND captopril response - Efficacy

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 24, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000417130.5

Allele description [Variation Report for NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT]

NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT

Gene:
ACE:angiotensin I converting enzyme [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
HGVS:
  • NC_000017.11:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NG_011648.1:g.16471_16472insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTTMANE SELECT
  • NM_001178057.2:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NM_152830.3:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NC_000017.10:g.61565890_61565891insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
  • NC_000017.10:g.61565904_61565905insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
Links:
PharmGKB: 982047862; PharmGKB: 982047862PA448780; dbSNP: rs1799752
NCBI 1000 Genomes Browser:
rs1799752
Molecular consequence:
  • NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178057.2:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_152830.3:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
captopril response - Efficacy
Identifiers:
MedGen: CN322725

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494691PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)
drug response
(Mar 24, 2021)
Condition: captopril response - Efficacy
Drug reported used for: Diabetes Mellitus, Type 2
germlinecuration

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Effects of captopril administration on pulmonary haemodynamics and tissue oxygenation during exercise in ACE gene subtypes in patients with COPD: a preliminary study.

Kanazawa H, Hirata K, Yoshikawa J.

Thorax. 2003 Jul;58(7):629-31.

PubMed [citation]
PMID:
12832683
PMCID:
PMC1746721

Impact of renin-angiotensin system polymorphisms on renal haemodynamic responsiveness to acute angiotensin-converting enzyme inhibition in type 2 diabetes mellitus.

Volkan-Salanci B, Dagdelen S, Alikasifoglu M, Erbas T, Hayran M, Erbas B.

J Renin Angiotensin Aldosterone Syst. 2009 Mar;10(1):41-50. doi: 10.1177/1470320309102326.

PubMed [citation]
PMID:
19286758
See all PubMed Citations (8)

Details of each submission

From PharmGKB, SCV000494691.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (8)

Description

PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024