chr19:10273372:T>C Detail (hg19) (DNMT1)

Go to:

Information

Genome

Assembly	Position
hg19	chr19:10,273,372-10,273,372
hg38	chr19:10,162,696-10,162,696 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	126375	OMIM
	HGNC	2976	HGNC
	Ensembl	ENSG00000130816	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv61155484	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2015-09-22	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	Hereditary sensory neuropathy-deafness-dementia syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	azoospermia	To explore the relationship between DNMT1 and spermatogenesis impairment, polymo...	BeFree	24631383	Detail
0.004	colon carcinoma	However, statistically significant interactions modifying CC risk were observed ...	BeFree	22961839	Detail
0.003	Malignant tumor of colon	However, statistically significant interactions modifying CC risk were observed ...	BeFree	22961839	Detail
<0.001	colon carcinoma	However, statistically significant interactions modifying CC risk were observed ...	BeFree	22961839	Detail
<0.001	Malignant tumor of colon	However, statistically significant interactions modifying CC risk were observed ...	BeFree	22961839	Detail
<0.001	Malignant neoplasm of esophagus	There was an inverse association between DNMT1 rs2228612 and esophageal cancer (...	BeFree	25337902	Detail
<0.001	Esophageal Neoplasms	There was an inverse association between DNMT1 rs2228612 and esophageal cancer (...	BeFree	25337902	Detail
<0.001	esophageal carcinoma	There was an inverse association between DNMT1 rs2228612 and esophageal cancer (...	BeFree	25337902	Detail

Annotation

Descrption	Source	Links
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) AND not specified	ClinVar	Detail
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) AND Hereditary sensory neuropathy-deafness-dementia syn...	ClinVar	Detail
To explore the relationship between DNMT1 and spermatogenesis impairment, polymorphic distributions ...	DisGeNET	Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with...	DisGeNET	Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with...	DisGeNET	Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with...	DisGeNET	Detail
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with...	DisGeNET	Detail
There was an inverse association between DNMT1 rs2228612 and esophageal cancer (any G versus A/A, SB...	DisGeNET	Detail
There was an inverse association between DNMT1 rs2228612 and esophageal cancer (any G versus A/A, SB...	DisGeNET	Detail
There was an inverse association between DNMT1 rs2228612 and esophageal cancer (any G versus A/A, SB...	DisGeNET	Detail

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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2228612 dbSNP
Genome: hg19
Position: chr19:10,273,372-10,273,372
Variant Type: snv
Reference Allele: T
Alternative Allele: C
Filtering Status (HGVD): PASS
# of samples (HGVD): 1182
Mean of sample read depth (HGVD): 41.51
Standard deviation of sample read depth (HGVD): 32.09
Number of reference allele (HGVD): 1565
Number of alternative allele (HGVD): 799
Allele Frequency (HGVD): 0.3379864636209814
Gene Symbol (HGVD): DNMT1
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)): rs2228612
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3313
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5551
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16756
East Asian Chromosome Counts (ExAC): 8622
East Asian Allele Counts (ExAC): 3635
East Asian Heterozygous Counts (ExAC): 2089
East Asian Homozygous Counts (ExAC): 773
East Asian Allele Frequency (ExAC): 0.4215959174205521
Chromosome Counts in All Race (ExAC): 121254
Allele Counts in All Race (ExAC): 16001
Heterozygous Counts in All Race (ExAC): 12491
Homozygous Counts in All Race (ExAC): 1755
Allele Frequency in All Race (ExAC): 0.13196265690204034

Genome browser