NM_002075.3(GNB3):c.825C>T (p.Ser275=) AND sildenafil response - Efficacy

Clinical significance:drug response (Last evaluated: Jul 11, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211272.1

Allele description [Variation Report for NM_002075.3(GNB3):c.825C>T (p.Ser275=)]

NM_002075.3(GNB3):c.825C>T (p.Ser275=)

Genes:
GNB3:G protein subunit beta 3 [Gene - OMIM - HGNC]
CDCA3:cell division cycle associated 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_002075.3(GNB3):c.825C>T (p.Ser275=)
HGVS:
  • NC_000012.12:g.6845711C>T
  • NG_009100.1:g.10501C>T
  • NM_002075.3:c.825C>T
  • NP_002066.1:p.Ser275=
  • NC_000012.11:g.6954875C>T
  • NW_003871083.2:g.47295C>T
Links:
PharmGKB Clinical Annotation: 655385125; dbSNP: rs5443
NCBI 1000 Genomes Browser:
rs5443
Molecular consequence:
  • NM_002075.3:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
sildenafil response - Efficacy
Identifiers:
MedGen: CN236581

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268363PharmGKBreviewed by expert panel
drug response
(Jul 11, 2016)
Condition: sildenafil response - Efficacy
Drug reported used for: Erectile Dysfunction
germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268363

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Sildenafil response is influenced by the G protein beta 3 subunit GNB3 C825T polymorphism: a pilot study.

Sperling H, Eisenhardt A, Virchow S, Hauck E, Lenk S, Porst H, Stief C, Wetterauer U, Rubben H, Muller N, Siffert W.

J Urol. 2003 Mar;169(3):1048-51.

PubMed [citation]
PMID:
12576843

Pharmacogenomics knowledge for personalized medicine.

Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE.

Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96. Review.

PubMed [citation]
PMID:
22992668
PMCID:
PMC3660037

Details of each submission

From PharmGKB, SCV000268363.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

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

Last Updated: Mar 30, 2019

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