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NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Gastrointestinal stromal tumor

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Oct 30, 2023
Review status:
no classifications from unflagged records
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:
RCV000144922.10

Allele description [Variation Report for NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)]

NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)

Gene:
MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
Other names:
MTHFR, 1298A-C, GLU429ALA (rs1801131); E429A
HGVS:
  • NC_000001.11:g.11794419T>G
  • NG_013351.1:g.16685A>C
  • NM_001330358.2:c.1409A>C
  • NM_005957.5:c.1286A>CMANE SELECT
  • NP_001317287.1:p.Glu470Ala
  • NP_005948.3:p.Glu429Ala
  • NP_005948.3:p.Glu429Ala
  • LRG_726t1:c.1286A>C
  • LRG_726:g.16685A>C
  • LRG_726p1:p.Glu429Ala
  • NC_000001.10:g.11854476T>G
  • NM_005957.4:c.1286A>C
  • P42898:p.Glu429Ala
Protein change:
E470A; GLU429ALA
Links:
Genetic Testing Registry (GTR): GTR000593372; Genetic Testing Registry (GTR): GTR000613302; PharmGKB Clinical Annotation: 1183705832; UniProtKB: P42898#VAR_014882; OMIM: 607093.0004; dbSNP: rs1801131
NCBI 1000 Genomes Browser:
rs1801131
Molecular consequence:
  • NM_001330358.2:c.1409A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005957.5:c.1286A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gastrointestinal stromal tumor
Synonyms:
Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
Identifiers:
MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes36not providednot providednot providednot providedcase-control

Citations

PubMed

Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.

Angelini S, Ravegnini G, Nannini M, Bermejo JL, Musti M, Pantaleo MA, Fumagalli E, Venturoli N, Palassini E, Consolini N, Casali PG, Biasco G, Hrelia P.

Eur J Hum Genet. 2015 Jun;23(6):817-23. doi: 10.1038/ejhg.2014.198. Epub 2014 Sep 17.

PubMed [citation]
PMID:
25227144
PMCID:
PMC4795063

Details of each submission

From Department of Pharmacy and Biotechnology, University of Bologna, SCV000187679.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided36not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided36not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187679Department of Pharmacy and Biotechnology, University of Bologna
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None
Uncertain significancegermlinecase-control

PubMed (1)
[See all records that cite this PMID]

Last Updated: Nov 10, 2024