chr3:37050544:A> 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	chr3:37,092,035-37,092,035
hg38	chr3:37,050,544-37,050,544

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.2162delA	NP_000240.1:p.Tyr721LeufsTer62
	NM_001167617.1:c.1868delA	NP_001161089.1:p.Tyr623LeufsTer62
	NM_001167618.1:c.1439delA	NP_001161090.1:p.Tyr480LeufsTer?
	NM_001258271.1:c.1955delA	NP_001245200.1:p.Tyr652LeufsTer62
	NM_001258274.1:c.1439delA	NP_001245203.1:p.Tyr480LeufsTer62
	NM_001258273.1:c.1439delA	NP_001245202.1:p.Tyr480LeufsTer62
	NM_001167619.1:c.1439delA	NP_001161091.1:p.Tyr480LeufsTer62
Ensemble	ENST00000231790.8:c.2162delA	ENST00000231790.8:p.Tyr721LeufsTer62
	ENST00000435176.5:c.1868delA	ENST00000435176.5:p.Tyr623LeufsTer62
	ENST00000455445.6:c.1439delA	ENST00000455445.6:p.Tyr480LeufsTer?
	ENST00000456676.7:c.1955delA	ENST00000456676.7:p.Tyr652LeufsTer62
	ENST00000458205.6:c.1439delA	ENST00000458205.6:p.Tyr480LeufsTer62
	ENST00000466900.6:c.1439delA	ENST00000466900.6:p.Tyr480LeufsTer62
	ENST00000485889.2:c.1439delA	ENST00000485889.2:p.Tyr480LeufsTer62
	ENST00000492474.6:c.1439delA	ENST00000492474.6:p.Tyr480LeufsTer62
	ENST00000536378.5:c.1439delA	ENST00000536378.5:p.Tyr480LeufsTer62
	ENST00000539477.6:c.1439delA	ENST00000539477.6:p.Tyr480LeufsTer62
	ENST00000616768.6:c.2069delA	ENST00000616768.6:p.Tyr690LeufsTer62
	ENST00000673673.2:c.1997delA	ENST00000673673.2:p.Tyr666LeufsTer62
	ENST00000673899.1:c.1430delA	ENST00000673899.1:p.Tyr477LeufsTer62
	ENST00000673990.2:c.1139delA	ENST00000673990.2:p.Tyr380LeufsTer62
	ENST00000674019.1:c.1439delA	ENST00000674019.1:p.Tyr480LeufsTer62
	ENST00000713802.1:c.2063delA	ENST00000713802.1:p.Tyr688LeufsTer62

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
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
Likely pathogenic	2017-06-12	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-09-15	criteria provided, single submitter	Hereditary nonpolyposis colon cancer	germline	Detail
Pathogenic	2023-07-25	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

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) AND Hereditary nonpolyposis colon cancer	ClinVar	Detail
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) 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: rs786202767 dbSNP
Genome: hg38
Position: chr3:37,050,544-37,050,544
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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