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NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) AND Gastrointestinal stromal tumor

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000144927.2

Allele description [Variation Report for NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)]

NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)

Gene:
MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.31
Genomic location:
Preferred name:
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)
Other names:
p.S202L:TCG>TTG
HGVS:
  • NC_000005.10:g.7878066C>T
  • NG_008856.1:g.13963C>T
  • NM_001364440.2:c.524C>T
  • NM_001364441.2:c.524C>T
  • NM_001364442.2:c.524C>T
  • NM_002454.3:c.524C>TMANE SELECT
  • NM_024010.4:c.524C>T
  • NP_001351369.1:p.Ser175Leu
  • NP_001351370.1:p.Ser175Leu
  • NP_001351371.1:p.Ser175Leu
  • NP_002445.2:p.Ser175Leu
  • NP_076915.3:p.Ser175Leu
  • NC_000005.9:g.7878179C>T
  • NM_002454.2:c.524C>T
  • NM_024010.2:c.605C>T
  • NR_134480.2:n.603C>T
  • NR_134481.2:n.617C>T
  • NR_134482.2:n.463C>T
  • NR_157168.2:n.577C>T
  • NR_157169.2:n.437C>T
  • NR_157170.2:n.463C>T
  • NR_157171.2:n.437C>T
  • NR_157172.2:n.463C>T
  • NR_157173.2:n.591C>T
  • NR_157174.2:n.463C>T
  • NR_157175.2:n.617C>T
  • NR_157176.2:n.617C>T
  • NR_157177.2:n.612C>T
  • NR_157178.2:n.617C>T
  • Q9UBK8:p.Ser202Leu
Protein change:
S175L
Links:
UniProtKB: Q9UBK8#VAR_034595; dbSNP: rs1532268
NCBI 1000 Genomes Browser:
rs1532268
Molecular consequence:
  • NM_001364440.2:c.524C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364441.2:c.524C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364442.2:c.524C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002454.3:c.524C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024010.4:c.524C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134480.2:n.603C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134481.2:n.617C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134482.2:n.463C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157168.2:n.577C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157169.2:n.437C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157170.2:n.463C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157171.2:n.437C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157172.2:n.463C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157173.2:n.591C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157174.2:n.463C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157175.2:n.617C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157176.2:n.617C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157177.2:n.612C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157178.2:n.617C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187684Department of Pharmacy and Biotechnology, University of Bologna
no assertion criteria provided
Uncertain significancegermlinecase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes34not 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, SCV000187684.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided34not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided34not providednot providednot provided

Last Updated: Oct 8, 2024