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NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) AND hydrochlorothiazide 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:
RCV001787814.11

Allele description [Variation Report for NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp)]

NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp)

Gene:
ADD1:adducin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp)
HGVS:
  • NC_000004.12:g.2904980G>T
  • NG_012037.1:g.66124G>T
  • NM_001119.5:c.1378G>T
  • NM_001286645.2:c.1378G>T
  • NM_001354754.2:c.1378G>T
  • NM_001354755.2:c.1378G>T
  • NM_001354756.2:c.1378G>T
  • NM_001354757.2:c.1378G>T
  • NM_001354758.2:c.1378G>T
  • NM_001354759.2:c.1378G>T
  • NM_001354761.2:c.1378G>TMANE SELECT
  • NM_001354762.2:c.1378G>T
  • NM_014189.4:c.1378G>T
  • NM_014190.4:c.1378G>T
  • NM_176801.3:c.1378G>T
  • NP_001110.2:p.Gly460Trp
  • NP_001273574.1:p.Gly460Trp
  • NP_001341683.1:p.Gly460Trp
  • NP_001341684.1:p.Gly460Trp
  • NP_001341685.1:p.Gly460Trp
  • NP_001341686.1:p.Gly460Trp
  • NP_001341687.1:p.Gly460Trp
  • NP_001341688.1:p.Gly460Trp
  • NP_001341690.1:p.Gly460Trp
  • NP_001341691.1:p.Gly460Trp
  • NP_054908.2:p.Gly460Trp
  • NP_054909.2:p.Gly460Trp
  • NP_789771.1:p.Gly460Trp
  • NC_000004.11:g.2906707G>T
  • P35611:p.Gly460Trp
Protein change:
G460W; GLY460TRP
Links:
PharmGKB: 981202806; PharmGKB Clinical Annotation: 981202806; UniProtKB: P35611#VAR_014184; OMIM: 102680.0001; dbSNP: rs4961
NCBI 1000 Genomes Browser:
rs4961
Molecular consequence:
  • NM_001119.5:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286645.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354754.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354755.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354756.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354757.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354758.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354759.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354761.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354762.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014189.4:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014190.4:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176801.3:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
hydrochlorothiazide response - Efficacy
Identifiers:
MedGen: CN322734

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031261PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Mar 24, 2021)
Condition: hydrochlorothiazide response - Efficacy
Drug reported used for: Essential hypertension		germlinecuration

PubMed (9)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

The role of alpha-adducin polymorphism in blood pressure and sodium handling regulation may not be excluded by a negative association study.

Glorioso N, Manunta P, Filigheddu F, Troffa C, Stella P, Barlassina C, Lombardi C, Soro A, Dettori F, Parpaglia PP, Alibrandi MT, Cusi D, Bianchi G.

Hypertension. 1999 Oct;34(4 Pt 1):649-54.

PubMed [citation]
PMID:
10523341

alpha-Adducin 460Trp allele is associated with erythrocyte Na transport rate in North Sardinian primary hypertensives.

Glorioso N, Filigheddu F, Cusi D, Troffa C, Conti M, Natalizio M, Argiolas G, Barlassina C, Bianchi G.

Hypertension. 2002 Feb;39(2 Pt 2):357-62.

PubMed [citation]
PMID:
11882573
See all PubMed Citations (9)

Details of each submission

From PharmGKB, SCV002031261.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (9)

Description

PharmGKB Level of Evidence 2B: Variants in Level 2B clinical annotations are not in PharmGKB’s Tier 1 VIPs. 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 2B 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: Sep 16, 2024