NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) AND oxaliplatin response - Efficacy - ClinVar

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NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) AND oxaliplatin response - Efficacy

Germline classification:: drug response (1 submission)
Last evaluated:: Dec 7, 2017
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:: RCV000660798.2

Allele description

NM_006297.3(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_006297.3(XRCC1):c.1196A>G (p.Gln399Arg)

HGVS:

NC_000019.10:g.43551574T>C
NG_033799.1:g.29005A>G
NM_006297.3:c.1196A>GMANE SELECT
NP_006288.2:p.Gln399Arg
LRG_784t1:c.1196A>G
LRG_784:g.29005A>G
NC_000019.9:g.44055726T>C
NM_006297.2:c.1196A>G

Protein change:

Q399R

Links:

PharmGKB: 655386657; PharmGKB: 655386657PA131285527; PharmGKB: 655386657PA150595617; PharmGKB: 655386657PA164713176; PharmGKB: 655386657PA448803; PharmGKB: 655386657PA449014; PharmGKB Clinical Annotation: 655386657; dbSNP: rs25487

NCBI 1000 Genomes Browser:

rs25487

Molecular consequence:

NM_006297.3:c.1196A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: oxaliplatin response - Efficacy
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000783037	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Dec 7, 2017) Condition: oxaliplatin response - Efficacy Drug reported used for: Carcinoma, Non-Small-Cell Lung	germline	curation	PubMed (12) [See all records that cite these PMIDs] 16875718, 19362955, 19786980, 20530282, 21057378, 22026922, 22188361, 22761669, 24446315, 25025378, 28422153, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000783037

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Dec 7, 2017)
Condition: oxaliplatin response - Efficacy
Drug reported used for: Carcinoma, Non-Small-Cell Lung

germline

curation

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

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, SCV000783037.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2021

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