chr1:236816521:G>A Detail (hg38) (MTR)

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

Genome

Assembly	Position
hg19	chr1:236,979,821-236,979,821 View the variant detail on this assembly version.
hg38	chr1:236,816,521-236,816,521

HGVS

MTR

Type	Transcript	Protein
RefSeq	NM_000254.2:c.742G>A	NP_000245.2:p.Val248Met
	NM_001291939.1:c.742G>A	NP_001278868.1:p.Val248Met
	NM_001291940.1:c.742G>A	NP_001278869.1:p.Val248Met
Ensemble	ENST00000366577.10:c.742G>A	ENST00000366577.10:p.Val248Met
	ENST00000535889.6:c.742G>A	ENST00000535889.6:p.Val248Met
	ENST00000674797.2:c.394G>A	ENST00000674797.2:p.Val132Met
	ENST00000679842.1:c.742G>A	ENST00000679842.1:p.Val248Met
	ENST00000681102.1:c.742G>A	ENST00000681102.1:p.Val248Met
	ENST00000681177.1:c.742G>A	ENST00000681177.1:p.Val248Met

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
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Links

MTR

Type	Database	ID	Link
Gene	MIM	156570	OMIM
	HGNC	7468	HGNC
	Ensembl	ENSG00000116984	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv305217985	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2018-01-13	criteria provided, single submitter	Disorders of Intracellular Cobalamin Metabolism	germline	Detail
Benign	2024-01-25	criteria provided, single submitter	Methylcobalamin deficiency type cblG	germline	Detail
Likely benign	2023-02-01	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2022-02-09	criteria provided, single submitter	MTR-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.005	obesity	We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat...	BeFree	17993766	Detail
0.231	obesity	We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat...	BeFree	17993766	Detail
0.003	obesity	We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat...	BeFree	17993766	Detail
0.007	congenital heart defects	Analyses of the study data provided marginal evidence that the maternal MTR A275...	BeFree	19777601	Detail
0.010	congenital heart defects	Analyses of the study data provided marginal evidence that the maternal MTR A275...	BeFree	19777601	Detail
0.010	coronary artery disease	To investigate the association between 3 major polymorphisms in genes encoding e...	BeFree	22339686	Detail
<0.001	obesity	We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat...	BeFree	17993766	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000254.3(MTR):c.742G>A (p.Val248Met) AND Disorders of Intracellular Cobalamin Metabolism	ClinVar	Detail
NM_000254.3(MTR):c.742G>A (p.Val248Met) AND Methylcobalamin deficiency type cblG	ClinVar	Detail
NM_000254.3(MTR):c.742G>A (p.Val248Met) AND not provided	ClinVar	Detail
NM_000254.3(MTR):c.742G>A (p.Val248Met) AND MTR-related disorder	ClinVar	Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C...	DisGeNET	Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C...	DisGeNET	Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C...	DisGeNET	Detail
Analyses of the study data provided marginal evidence that the maternal MTR A2756G (unadjusted p = 0...	DisGeNET	Detail
Analyses of the study data provided marginal evidence that the maternal MTR A2756G (unadjusted p = 0...	DisGeNET	Detail
To investigate the association between 3 major polymorphisms in genes encoding enzymes involved in r...	DisGeNET	Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C...	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: rs142648132 dbSNP
Genome: hg38
Position: chr1:236,816,521-236,816,521
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121366
Allele Counts in All Race (ExAC): 116
Heterozygous Counts in All Race (ExAC): 112
Homozygous Counts in All Race (ExAC): 2
Allele Frequency in All Race (ExAC): 9.557866288746437E-4

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