chr3:37025788:T> Detail (hg38) (MLH1)

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

Information

Genome

Assembly	Position
hg19	chr3:37,067,279-37,067,279
hg38	chr3:37,025,788-37,025,788

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1190delT	NP_000240.1:p.Leu397ArgfsTer4
	NM_001167617.1:c.896delT	NP_001161089.1:p.Leu299ArgfsTer4
	NM_001167618.1:c.467delT	NP_001161090.1:p.Leu156ArgfsTer4
	NM_001258271.1:c.1190delT	NP_001245200.1:p.Leu397ArgfsTer4
	NM_001258274.1:c.467delT	NP_001245203.1:p.Leu156ArgfsTer4
	NM_001258273.1:c.467delT	NP_001245202.1:p.Leu156ArgfsTer4
	NM_001167619.1:c.467delT	NP_001161091.1:p.Leu156ArgfsTer4
Ensemble	ENST00000231790.8:c.1190delT	ENST00000231790.8:p.Leu397ArgfsTer4
	ENST00000435176.5:c.896delT	ENST00000435176.5:p.Leu299ArgfsTer4
	ENST00000441265.6:c.467delT	ENST00000441265.6:p.Leu156ArgfsTer4
	ENST00000450420.6:c.1190delT	ENST00000450420.6:p.Leu397ArgfsTer4
	ENST00000455445.6:c.467delT	ENST00000455445.6:p.Leu156ArgfsTer4
	ENST00000456676.7:c.1190delT	ENST00000456676.7:p.Leu397ArgfsTer4
	ENST00000458205.6:c.467delT	ENST00000458205.6:p.Leu156ArgfsTer4
	ENST00000466900.6:c.467delT	ENST00000466900.6:p.Leu156ArgfsTer4
	ENST00000485889.2:c.467delT	ENST00000485889.2:p.Leu156ArgfsTer4
	ENST00000492474.6:c.467delT	ENST00000492474.6:p.Leu156ArgfsTer4
	ENST00000536378.5:c.467delT	ENST00000536378.5:p.Leu156ArgfsTer4
	ENST00000539477.6:c.467delT	ENST00000539477.6:p.Leu156ArgfsTer4
	ENST00000616768.6:c.1190delT	ENST00000616768.6:p.Leu397ArgfsTer4
	ENST00000673673.2:c.1190delT	ENST00000673673.2:p.Leu397ArgfsTer4
	ENST00000673715.1:c.1190delT	ENST00000673715.1:p.Leu397ArgfsTer4
	ENST00000673899.1:c.678-2996delT
	ENST00000673990.2:c.167delT	ENST00000673990.2:p.Leu56ArgfsTer4
	ENST00000674019.1:c.467delT	ENST00000674019.1:p.Leu156ArgfsTer4
	ENST00000713802.1:c.1091delT	ENST00000713802.1:p.Leu364ArgfsTer4

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic	2022-05-12	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-07-10	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Uncertain significance		no assertion criteria provided	not provided	unknown	Detail
Pathogenic	2023-07-19	criteria provided, single submitter	Colorectal cancer, hereditary nonpolyposis, type 2	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.1190del (p.Leu397fs) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1190del (p.Leu397fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1190del (p.Leu397fs) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.1190del (p.Leu397fs) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.1190del (p.Leu397fs) AND Colorectal cancer, hereditary nonpolyposis, type 2	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: rs63750749 dbSNP
Genome: hg38
Position: chr3:37,025,788-37,025,788
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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