NM_006297.2(XRCC1):c.1196A>G (p.Gln399Arg) AND Platinum compounds response - Efficacy

Clinical significance:drug response (Last evaluated: Dec 7, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000660800.1

Allele description [Variation Report for NM_006297.2(XRCC1):c.1196A>G (p.Gln399Arg)]

NM_006297.2(XRCC1):c.1196A>G (p.Gln399Arg)

Gene:
XRCC1:X-ray repair cross complementing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.31
Genomic location:
Preferred name:
NM_006297.2(XRCC1):c.1196A>G (p.Gln399Arg)
HGVS:
  • NC_000019.10:g.43551574T>C
  • NG_033799.1:g.29005A>G
  • NM_006297.2:c.1196A>G
  • NP_006288.2:p.Gln399Arg
  • LRG_784t1:c.1196A>G
  • LRG_784:g.29005A>G
  • LRG_784p1:p.Gln399Arg
  • NC_000019.9:g.44055726T>C
Protein change:
Q399R
Links:
PharmGKB Clinical Annotation: 655386657; dbSNP: rs25487
NCBI 1000 Genomes Browser:
rs25487
Molecular consequence:
  • NM_006297.2:c.1196A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Platinum compounds response - Efficacy
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000783039PharmGKBreviewed by expert panel
drug response
(Dec 7, 2017)
Condition: Platinum compounds response - Efficacy
Drug reported used for: Carcinoma, Non-Small-Cell Lung
germlinecuration

PubMed (12)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000783039

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer.

Chung HH, Kim MK, Kim JW, Park NH, Song YS, Kang SB, Lee HP.

Gynecol Oncol. 2006 Dec;103(3):1031-7. Epub 2006 Jul 27.

PubMed [citation]
PMID:
16875718

DNA repair gene polymorphisms predict favorable clinical outcome in advanced non-small-cell lung cancer.

Kalikaki A, Kanaki M, Vassalou H, Souglakos J, Voutsina A, Georgoulias V, Mavroudis D.

Clin Lung Cancer. 2009 Mar;10(2):118-23. doi: 10.3816/CLC.2009.n.015.

PubMed [citation]
PMID:
19362955
See all PubMed Citations (12)

Details of each submission

From PharmGKB, SCV000783039.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (12)

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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