chr3:37089136:G> 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	chr3:37,089,136-37,089,136
hg38	chr3:37,047,645-37,047,645

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1858delG	NP_000240.1:p.Glu620ArgfsTer17
	NM_001167617.1:c.1564delG	NP_001161089.1:p.Glu522ArgfsTer17
	NM_001167618.1:c.1135delG	NP_001161090.1:p.Glu379ArgfsTer17
	NM_001258271.1:c.1858delG	NP_001245200.1:p.Glu620ArgfsTer94
	NM_001258274.1:c.1135delG	NP_001245203.1:p.Glu379ArgfsTer17
	NM_001258273.1:c.1135delG	NP_001245202.1:p.Glu379ArgfsTer17
	NM_001167619.1:c.1135delG	NP_001161091.1:p.Glu379ArgfsTer17
Ensemble	ENST00000231790.8:c.1858delG	ENST00000231790.8:p.Glu620ArgfsTer17
	ENST00000435176.5:c.1564delG	ENST00000435176.5:p.Glu522ArgfsTer17
	ENST00000441265.6:c.*87delG
	ENST00000450420.6:c.1559-2841delG
	ENST00000455445.6:c.1135delG	ENST00000455445.6:p.Glu379ArgfsTer17
	ENST00000456676.7:c.1858delG	ENST00000456676.7:p.Glu620ArgfsTer94
	ENST00000458205.6:c.1135delG	ENST00000458205.6:p.Glu379ArgfsTer17
	ENST00000466900.6:c.1135delG	ENST00000466900.6:p.Glu379ArgfsTer17
	ENST00000485889.2:c.1135delG	ENST00000485889.2:p.Glu379ArgfsTer17
	ENST00000492474.6:c.1135delG	ENST00000492474.6:p.Glu379ArgfsTer17
	ENST00000536378.5:c.1135delG	ENST00000536378.5:p.Glu379ArgfsTer17
	ENST00000539477.6:c.1135delG	ENST00000539477.6:p.Glu379ArgfsTer17
	ENST00000616768.6:c.1858delG	ENST00000616768.6:p.Glu620ArgfsTer14
	ENST00000673673.2:c.1732-872delG
	ENST00000673715.1:c.1858delG	ENST00000673715.1:p.Glu620ArgfsTer27
	ENST00000673899.1:c.1126delG	ENST00000673899.1:p.Glu376ArgfsTer17
	ENST00000673990.2:c.835delG	ENST00000673990.2:p.Glu279ArgfsTer17
	ENST00000674019.1:c.1135delG	ENST00000674019.1:p.Glu379ArgfsTer17
	ENST00000713802.1:c.1759delG	ENST00000713802.1:p.Glu587ArgfsTer17

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	2022-05-05	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-02-09	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-09-30	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic Likely pathogenic	2023-07-24	criteria provided, multiple submitters, no conflicts	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

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.1858del (p.Glu620fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1858del (p.Glu620fs) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.1858del (p.Glu620fs) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.1858del (p.Glu620fs) AND Colorectal cancer, hereditary nonpolyposis, type 2	ClinVar	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: rs786203456 dbSNP
Genome: hg19
Position: chr3:37,089,136-37,089,136
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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