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NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) AND methotrexate 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:
RCV001788041.4

Allele description [Variation Report for NM_194255.4(SLC19A1):c.80A>G (p.His27Arg)]

NM_194255.4(SLC19A1):c.80A>G (p.His27Arg)

Gene:
SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg)
Other names:
RFC G80A
HGVS:
  • NC_000021.9:g.45537880T>C
  • NG_028278.2:g.30264A>G
  • NM_001205206.4:c.80A>G
  • NM_001352510.2:c.-279A>G
  • NM_001352511.3:c.80A>G
  • NM_001352512.2:c.80A>G
  • NM_194255.4:c.80A>GMANE SELECT
  • NP_001192135.1:p.His27Arg
  • NP_001339440.1:p.His27Arg
  • NP_001339441.1:p.His27Arg
  • NP_919231.1:p.His27Arg
  • NC_000021.8:g.46957794T>C
  • NC_000021.8:g.46957794T>C
  • P41440:p.His27Arg
Protein change:
H27R
Links:
UniProtKB: P41440#VAR_020210; dbSNP: rs1051266
NCBI 1000 Genomes Browser:
rs1051266
Molecular consequence:
  • NM_001352510.2:c.-279A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001205206.4:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352511.3:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352512.2:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194255.4:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
methotrexate response - Efficacy
Identifiers:
MedGen: CN322736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031253PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Mar 24, 2021)
Condition: methotrexate response - Efficacy
Drug reported used for: Arthritis, Rheumatoid		germlinecuration

PubMed (10)
[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

Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis.

Dervieux T, Furst D, Lein DO, Capps R, Smith K, Walsh M, Kremer J.

Arthritis Rheum. 2004 Sep;50(9):2766-74.

PubMed [citation]
PMID:
15457444

Pharmacogenetic and metabolite measurements are associated with clinical status in patients with rheumatoid arthritis treated with methotrexate: results of a multicentred cross sectional observational study.

Dervieux T, Furst D, Lein DO, Capps R, Smith K, Caldwell J, Kremer J.

Ann Rheum Dis. 2005 Aug;64(8):1180-5. Epub 2005 Jan 27.

PubMed [citation]
PMID:
15677700
PMCID:
PMC1755602
See all PubMed Citations (10)

Details of each submission

From PharmGKB, SCV002031253.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (10)

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: Nov 3, 2024