chr22:30615623:G>A Detail (hg38) (TCN2)

Information

Genome

Assembly Position
hg19 chr22:31,011,610-31,011,610 View the variant detail on this assembly version.
hg38 chr22:30,615,623-30,615,623

HGVS

Type Transcript Protein
RefSeq NM_000355.3:c.776G>A NP_000346.2:p.Arg259His
NM_001184726.1:c.695G>A NP_001171655.1:p.Arg232His
Ensemble ENST00000215838.8:c.776G>A ENST00000215838.8:p.Arg259His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 613441 OMIM
HGNC 11653 HGNC
Ensembl ENSG00000185339 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65703250 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-11-02 criteria provided, single submitter transcobalamin II deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cardiovascular Diseases We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, i... BeFree 12194912 Detail
0.004 ovarian carcinoma Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
0.013 Malignant neoplasm of ovary Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
<0.001 ovarian carcinoma Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
0.003 Malignant neoplasm of ovary Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890)... BeFree 22183302 Detail
<0.001 Homocysteinemia Our results, if confirmed in other populations, highlight the necessity for inve... BeFree 16820193 Detail
0.008 hyperhomocysteinemia Our results, if confirmed in other populations, highlight the necessity for inve... BeFree 16820193 Detail
<0.001 Glioblastoma multiforme We investigated MTR c.2756A&gt;G, MTHFR c.677C&gt;T, and a third polymorphism, t... BeFree 17119065 Detail
<0.001 Glioblastoma multiforme We investigated MTR c.2756A&gt;G, MTHFR c.677C&gt;T, and a third polymorphism, t... BeFree 17119065 Detail
0.009 glioblastoma We investigated MTR c.2756A&gt;G, MTHFR c.677C&gt;T, and a third polymorphism, t... BeFree 17119065 Detail
<0.001 glioblastoma We investigated MTR c.2756A&gt;G, MTHFR c.677C&gt;T, and a third polymorphism, t... BeFree 17119065 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000355.4(TCN2):c.776G>A (p.Arg259His) AND Transcobalamin II deficiency ClinVar Detail
We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, in the TC gene as pos... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225)... DisGeNET Detail
Our results, if confirmed in other populations, highlight the necessity for investigation of the tra... DisGeNET Detail
Our results, if confirmed in other populations, highlight the necessity for investigation of the tra... DisGeNET Detail
We investigated MTR c.2756A&gt;G, MTHFR c.677C&gt;T, and a third polymorphism, transcobalamin 2 c.77... DisGeNET Detail
We investigated MTR c.2756A&gt;G, MTHFR c.677C&gt;T, and a third polymorphism, transcobalamin 2 c.77... DisGeNET Detail
We investigated MTR c.2756A&gt;G, MTHFR c.677C&gt;T, and a third polymorphism, transcobalamin 2 c.77... DisGeNET Detail
We investigated MTR c.2756A&gt;G, MTHFR c.677C&gt;T, and a third polymorphism, transcobalamin 2 c.77... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1801198 dbSNP
Genome
hg38
Position
chr22:30,615,623-30,615,623
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1801198
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8614
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1609008590666357E-4
Chromosome Counts in All Race (ExAC)
121212
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.6000066000066E-5
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