chr1:11796313:T>C Detail (hg38) (MTHFR)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:11,856,370-11,856,370 View the variant detail on this assembly version.
hg38	chr1:11,796,313-11,796,313

HGVS

MTHFR

Type	Transcript	Protein
RefSeq	NM_005957.4:c.673A>G	NP_005948.3:p.Ile225Val
Ensemble	ENST00000376583.7:c.796A>G	ENST00000376583.7:p.Ile266Val
	ENST00000376585.6:c.796A>G	ENST00000376585.6:p.Ile266Val
	ENST00000376590.9:c.673A>G	ENST00000376590.9:p.Ile225Val
	ENST00000376592.6:c.673A>G	ENST00000376592.6:p.Ile225Val
	ENST00000423400.7:c.793A>G	ENST00000423400.7:p.Ile265Val
	ENST00000641407.1:c.673A>G	ENST00000641407.1:p.Ile225Val
	ENST00000641820.1:c.-63A>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

MTHFR

Type	Database	ID	Link
Gene	MIM	607093	OMIM
	HGNC	7436	HGNC
	Ensembl	ENSG00000177000	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv296888012	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-10-14	criteria provided, single submitter	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	germline	Detail
Likely pathogenic	2022-02-28	criteria provided, single submitter	schizophrenia	unknown	Detail
Uncertain significance	2022-02-27	criteria provided, single submitter	Neural tube defects, folate-sensitive,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,schizophrenia,thrombophilia due to thrombin defect	unknown	Detail
Uncertain significance	2022-02-27	criteria provided, single submitter	Neural tube defects, folate-sensitive,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,schizophrenia,thrombophilia due to thrombin defect	unknown	Detail
Uncertain significance	2022-02-27	criteria provided, single submitter	Neural tube defects, folate-sensitive,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,schizophrenia,thrombophilia due to thrombin defect	unknown	Detail
Uncertain significance	2022-02-27	criteria provided, single submitter	Neural tube defects, folate-sensitive,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,schizophrenia,thrombophilia due to thrombin defect	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	NA	CLINVAR		Detail
0.012	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.041	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.005	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.057	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.002	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.033	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.009	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.002	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.007	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
<0.001	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.016	Malignant neoplasm of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail
0.007	Carcinoma of lung	Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C...	BeFree	17259654	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) AND Homocystinuria due to methylene tetrahydrofolate reduc...	ClinVar	Detail
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) AND Schizophrenia	ClinVar	Detail
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) AND multiple conditions	ClinVar	Detail
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) AND multiple conditions	ClinVar	Detail
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) AND multiple conditions	ClinVar	Detail
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	DisGeNET	Detail
Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR...	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: rs200100285 dbSNP
Genome: hg38
Position: chr1:11,796,313-11,796,313
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121402
Allele Counts in All Race (ExAC): 13
Heterozygous Counts in All Race (ExAC): 13
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.070822556465297E-4

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