chr3:37038193:G>A Detail (hg19) (MLH1)

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

Information

Genome

Assembly	Position
hg19	chr3:37,038,193-37,038,193
hg38	chr3:36,996,702-36,996,702 View the variant detail on this assembly version.

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.200G>A	NP_000240.1:p.Gly67Glu
	NM_001167617.1:c.-90G>A
	NM_001167618.1:c.-524G>A
	NM_001258271.1:c.200G>A	NP_001245200.1:p.Gly67Glu
	NM_001258274.1:c.-669G>A
	NM_001258273.1:c.-517+3039G>A
	NM_001167619.1:c.-432G>A
Ensemble	ENST00000231790.8:c.200G>A	ENST00000231790.8:p.Gly67Glu
	ENST00000435176.5:c.-90G>A
	ENST00000441265.6:c.-524G>A
	ENST00000450420.6:c.200G>A	ENST00000450420.6:p.Gly67Glu
	ENST00000455445.6:c.-524G>A
	ENST00000456676.7:c.200G>A	ENST00000456676.7:p.Gly67Glu
	ENST00000458205.6:c.-669G>A
	ENST00000466900.6:c.-630G>A
	ENST00000485889.2:c.-524G>A
	ENST00000492474.6:c.-524G>A
	ENST00000536378.5:c.-517+3039G>A
	ENST00000539477.6:c.-432G>A
	ENST00000616768.6:c.200G>A	ENST00000616768.6:p.Gly67Glu
	ENST00000673673.2:c.200G>A	ENST00000673673.2:p.Gly67Glu
	ENST00000673715.1:c.200G>A	ENST00000673715.1:p.Gly67Glu
	ENST00000673899.1:c.200G>A	ENST00000673899.1:p.Gly67Glu
	ENST00000673990.2:c.-730G>A
	ENST00000674019.1:c.-524G>A
	ENST00000713802.1:c.200G>A	ENST00000713802.1:p.Gly67Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic	2009-01-27	no assertion criteria provided	Colorectal cancer, hereditary nonpolyposis, type 2	germline	Detail
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic	2021-05-11	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-03-15	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-12-15	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Hereditary Non-Polyposis Colon Cancer Type 2	NA	CLINVAR		Detail
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.329	Hereditary Nonpolyposis Colorectal Cancer	The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch s...	BeFree	19142183	Detail
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) AND Colorectal cancer, hereditary nonpolyposis, type 2	ClinVar	Detail
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.	DisGeNET	Detail
NA	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: rs63749939 dbSNP
Genome: hg19
Position: chr3:37,038,193-37,038,193
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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