MTRR S284T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

MTRR S284T

(MTRR Ser284Thr)


Short summary

While other variants in MTRR are associated with homocystinuria (among other diseases), GeneDx classifies this variant in ClinVar as probably benign.

Variant evidence
Computational 1

other variants in this gene are pathogenic

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated benign

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr5:7878424: 2.1% (228/10758) in EVS
  • A @ chr5:7931423: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (228/10758)

Publications
 

Genomes
 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr5:7878424

 

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr5:7931424

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr5:7931424

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr5:7931424

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr5:7931424

 

Other external references
 

    dbSNP
  • rs2303080
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • PCPGM: Genotyping
    Footer ... rs2303080. S284T. T-->A. MTRR. rs1801394. I22M. A-->G. NAT2 341. rs1901280. I114T. T-->C. NAT2 857. rs1799931. G286E. G-->A. NAT2. rs1799930. R197Q. G-->A. ODC. G316A ...
    hpcgg.org/Genotyping/SNP_List.jsp?...
  • Type I- 97%
    ... target genes 12027456 10666372 10435629 12000790 12114015 11818547 IRS1 P35568 ... dysplasia 15994868 MTRR Q9UBK8 S284T 284 VAR_034596 gCK1 (0.699) Polymorphism ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_97.txt
  • Type I- 95%
    ... Reference(s) for phosphorylation site NKX2-5 P52952 S45P 45 VAR_038217 gCK1 (0. ... (0.589) MDB and hepatocellular carcinoma, enhances transactivation of target ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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