chr3:37053568:A>C Detail (hg19) (MLH1)

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

Genome

Assembly	Position
hg19	chr3:37,053,568-37,053,568
hg38	chr3:37,012,077-37,012,077 View the variant detail on this assembly version.

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.655A>C	NP_000240.1:p.Ile219Leu
	NM_001167617.1:c.361A>C	NP_001161089.1:p.Ile121Leu
	NM_001167618.1:c.-69A>C
	NM_001258271.1:c.655A>C	NP_001245200.1:p.Ile219Leu
	NM_001258274.1:c.-69A>C
	NM_001258273.1:c.-69A>C
	NM_001167619.1:c.-69A>C
Ensemble	ENST00000231790.8:c.655A>C	ENST00000231790.8:p.Ile219Leu
	ENST00000435176.5:c.361A>C	ENST00000435176.5:p.Ile121Leu
	ENST00000441265.6:c.-69A>C
	ENST00000450420.6:c.655A>C	ENST00000450420.6:p.Ile219Leu
	ENST00000455445.6:c.-69A>C
	ENST00000456676.7:c.655A>C	ENST00000456676.7:p.Ile219Leu
	ENST00000458205.6:c.-69A>C
	ENST00000466900.6:c.-69A>C
	ENST00000485889.2:c.-69A>C
	ENST00000492474.6:c.-69A>C
	ENST00000536378.5:c.-69A>C
	ENST00000539477.6:c.-69A>C
	ENST00000616768.6:c.655A>C	ENST00000616768.6:p.Ile219Leu
	ENST00000673673.2:c.655A>C	ENST00000673673.2:p.Ile219Leu
	ENST00000673715.1:c.655A>C	ENST00000673715.1:p.Ile219Leu
	ENST00000673899.1:c.655A>C	ENST00000673899.1:p.Ile219Leu
	ENST00000673990.2:c.-275A>C
	ENST00000674019.1:c.-69A>C
	ENST00000713802.1:c.556A>C	ENST00000713802.1:p.Ile186Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Benign
Review star
Show details

Links

MLH1

Type	Database	ID	Link
Gene	MIM	120436	OMIM
	HGNC	7127	HGNC
	Ensembl	ENSG00000076242	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.085	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.008	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.015	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.011	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.002	adenoma	In a Minnesota-based case-control study of individuals with adenomas (N=401), hy...	BeFree	16771955	Detail
0.002	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.009	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.019	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.001	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.004	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
<0.001	polyps	In a Minnesota-based case-control study of individuals with adenomas (N=401), hy...	BeFree	16771955	Detail
0.018	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
<0.001	Hyperplastic Polyp	In a Minnesota-based case-control study of individuals with adenomas (N=401), hy...	BeFree	16771955	Detail
0.023	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.013	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.002	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.013	polyps	In a Minnesota-based case-control study of individuals with adenomas (N=401), hy...	BeFree	16771955	Detail
0.098	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
<0.001	Polyp of large intestine	In a Minnesota-based case-control study of individuals with adenomas (N=401), hy...	BeFree	16771955	Detail
0.015	Malignant neoplasm of ovary	When the analyses were restricted to serous type ovarian cancer, two SNPs showed...	BeFree	18723338	Detail
<0.001	Hereditary pancreatitis	Second, the samples from Finnish hereditary prostate cancer (HPC) families were ...	BeFree	16963262	Detail
0.329	Hereditary Nonpolyposis Colorectal Cancer	Evaluation of MLH1 I219V polymorphism in unrelated South American individuals su...	BeFree	23060557	Detail
0.329	Hereditary Nonpolyposis Colorectal Cancer	The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs be...	BeFree	16982745	Detail
0.012	ulcerative colitis	Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulce...	BeFree	18200512	Detail
0.020	colon carcinoma	Statistically significant interactions were observed between: MLH1 -93G>A and...	BeFree	18523027	Detail
0.332	Hereditary Nonpolyposis Colorectal Cancer	To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South ...	BeFree	23060557	Detail
0.003	Malignant neoplasm of ovary	When the analyses were restricted to serous type ovarian cancer, two SNPs showed...	BeFree	18723338	Detail
0.002	ovarian carcinoma	When the analyses were restricted to serous type ovarian cancer, two SNPs showed...	BeFree	18723338	Detail
0.010	ovarian carcinoma	When the analyses were restricted to serous type ovarian cancer, two SNPs showed...	BeFree	18723338	Detail
0.012	ulcerative colitis	I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis.	BeFree	19371218	Detail
0.005	breast carcinoma	We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738...	BeFree	23755158	Detail
0.059	Malignant neoplasm of breast	We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738...	BeFree	23755158	Detail
<0.001	breast carcinoma	We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738...	BeFree	23755158	Detail
0.022	Malignant neoplasm of breast	We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738...	BeFree	23755158	Detail
<0.001	Malignant neoplasm of breast	We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738...	BeFree	23755158	Detail
0.008	breast carcinoma	We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738...	BeFree	23755158	Detail
0.021	breast carcinoma	We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738...	BeFree	23755158	Detail
0.019	Malignant neoplasm of breast	We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738...	BeFree	23755158	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.655A>C (p.Ile219Leu) AND Lynch syndrome	ClinVar	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N...	DisGeNET	Detail
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan...	DisGeNET	Detail
Second, the samples from Finnish hereditary prostate cancer (HPC) families were used for the screeni...	DisGeNET	Detail
Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Ly...	DisGeNET	Detail
The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously...	DisGeNET	Detail
Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitis.	DisGeNET	Detail
Statistically significant interactions were observed between: MLH1 -93G>A and smoking (MSI-negati...	DisGeNET	Detail
To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals...	DisGeNET	Detail
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan...	DisGeNET	Detail
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan...	DisGeNET	Detail
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan...	DisGeNET	Detail
I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis.	DisGeNET	Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an...	DisGeNET	Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an...	DisGeNET	Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an...	DisGeNET	Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an...	DisGeNET	Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an...	DisGeNET	Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an...	DisGeNET	Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an...	DisGeNET	Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an...	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: rs1799977 dbSNP
Genome: hg19
Position: chr3:37,053,568-37,053,568
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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