chr3:37017521:C>G Detail (hg38) (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	chr3:37,059,012-37,059,012 View the variant detail on this assembly version.
hg38	chr3:37,017,521-37,017,521

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.806C>G	NP_000240.1:p.Ser269Ter
	NM_001167617.1:c.512C>G	NP_001161089.1:p.Ser171Ter
	NM_001167618.1:c.83C>G	NP_001161090.1:p.Ser28Ter
	NM_001258271.1:c.806C>G	NP_001245200.1:p.Ser269Ter
	NM_001258274.1:c.83C>G	NP_001245203.1:p.Ser28Ter
	NM_001258273.1:c.83C>G	NP_001245202.1:p.Ser28Ter
	NM_001167619.1:c.83C>G	NP_001161091.1:p.Ser28Ter
Ensemble	ENST00000231790.8:c.806C>G	ENST00000231790.8:p.Ser269Ter
	ENST00000435176.5:c.512C>G	ENST00000435176.5:p.Ser171Ter
	ENST00000441265.6:c.83C>G	ENST00000441265.6:p.Ser28Ter
	ENST00000450420.6:c.806C>G	ENST00000450420.6:p.Ser269Ter
	ENST00000455445.6:c.83C>G	ENST00000455445.6:p.Ser28Ter
	ENST00000456676.7:c.806C>G	ENST00000456676.7:p.Ser269Ter
	ENST00000458205.6:c.83C>G	ENST00000458205.6:p.Ser28Ter
	ENST00000466900.6:c.83C>G	ENST00000466900.6:p.Ser28Ter
	ENST00000485889.2:c.83C>G	ENST00000485889.2:p.Ser28Ter
	ENST00000492474.6:c.83C>G	ENST00000492474.6:p.Ser28Ter
	ENST00000536378.5:c.83C>G	ENST00000536378.5:p.Ser28Ter
	ENST00000539477.6:c.83C>G	ENST00000539477.6:p.Ser28Ter
	ENST00000616768.6:c.806C>G	ENST00000616768.6:p.Ser269Ter
	ENST00000673673.2:c.806C>G	ENST00000673673.2:p.Ser269Ter
	ENST00000673715.1:c.806C>G	ENST00000673715.1:p.Ser269Ter
	ENST00000673899.1:c.677+5422C>G
	ENST00000673990.2:c.-139-2789C>G
	ENST00000674019.1:c.83C>G	ENST00000674019.1:p.Ser28Ter
	ENST00000713802.1:c.707C>G	ENST00000713802.1:p.Ser236Ter

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	2004-12-01	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	2018-02-10	no assertion criteria provided		germline	Detail
Pathogenic	2018-05-15	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic		no assertion criteria provided	not provided	germline	Detail
Pathogenic	2021-07-13	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2	ClinVar	Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Colon cancer	ClinVar	Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	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: rs63750691 dbSNP
Genome: hg38
Position: chr3:37,017,521-37,017,521
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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