chr3:37090446:G>A 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	chr3:37,090,446-37,090,446
hg38	chr3:37,048,955-37,048,955 View the variant detail on this assembly version.

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_001258271.1:c.1896+1272G>A
	NM_000249.3:c.2041G>A	NP_000240.1:p.Ala681Thr
	NM_001167617.1:c.1747G>A	NP_001161089.1:p.Ala583Thr
	NM_001167618.1:c.1318G>A	NP_001161090.1:p.Ala440Thr
	NM_001258274.1:c.1318G>A	NP_001245203.1:p.Ala440Thr
	NM_001258273.1:c.1318G>A	NP_001245202.1:p.Ala440Thr
	NM_001167619.1:c.1318G>A	NP_001161091.1:p.Ala440Thr
Ensemble	ENST00000456676.7:c.1896+1272G>A
	ENST00000231790.8:c.2041G>A	ENST00000231790.8:p.Ala681Thr
	ENST00000435176.5:c.1747G>A	ENST00000435176.5:p.Ala583Thr
	ENST00000450420.6:c.1559-1531G>A
	ENST00000455445.6:c.1318G>A	ENST00000455445.6:p.Ala440Thr
	ENST00000458205.6:c.1318G>A	ENST00000458205.6:p.Ala440Thr
	ENST00000466900.6:c.1318G>A	ENST00000466900.6:p.Ala440Thr
	ENST00000485889.2:c.1318G>A	ENST00000485889.2:p.Ala440Thr
	ENST00000492474.6:c.1318G>A	ENST00000492474.6:p.Ala440Thr
	ENST00000536378.5:c.1318G>A	ENST00000536378.5:p.Ala440Thr
	ENST00000539477.6:c.1318G>A	ENST00000539477.6:p.Ala440Thr
	ENST00000616768.6:c.1948G>A	ENST00000616768.6:p.Ala650Thr
	ENST00000673673.2:c.1876G>A	ENST00000673673.2:p.Ala626Thr
	ENST00000673899.1:c.1309G>A	ENST00000673899.1:p.Ala437Thr
	ENST00000673990.2:c.1018G>A	ENST00000673990.2:p.Ala340Thr
	ENST00000674019.1:c.1318G>A	ENST00000674019.1:p.Ala440Thr
	ENST00000713802.1:c.1942G>A	ENST00000713802.1:p.Ala648Thr

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	2022-06-30	criteria provided, multiple submitters, no conflicts	Colorectal cancer, hereditary nonpolyposis, type 2	germline unknown	Detail
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Uncertain significance		no assertion criteria provided	not specified	unknown	Detail
Pathogenic	2022-04-12	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-01-15	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1	unknown	Detail
Pathogenic	2021-03-01	criteria provided, single submitter	Hereditary nonpolyposis colon cancer	germline	Detail
Pathogenic	2022-07-26	criteria provided, single submitter	Muir-Torré 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.2041G>A (p.Ala681Thr) AND Colorectal cancer, hereditary nonpolyposis, type 2	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND not specified	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND multiple conditions	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND multiple conditions	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND multiple conditions	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Hereditary nonpolyposis colon cancer	ClinVar	Detail
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Muir-Torré 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: rs63750217 dbSNP
Genome: hg19
Position: chr3:37,090,446-37,090,446
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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