chr3:37056036:G>A Detail (hg19) (MLH1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:37,056,036-37,056,036
hg38	chr3:37,014,545-37,014,545 View the variant detail on this assembly version.

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_001167618.1:c.67+1G>A
	NM_001258271.1:c.790+1G>A
	NM_000249.3:c.790+1G>A
	NM_001258274.1:c.67+1G>A
	NM_001258273.1:c.67+1G>A
	NM_001167619.1:c.67+1G>A
	NM_001167617.1:c.496+1G>A
Ensemble	ENST00000441265.6:c.67+1G>A
	ENST00000455445.6:c.67+1G>A
	ENST00000456676.7:c.790+1G>A
	ENST00000231790.8:c.790+1G>A
	ENST00000485889.2:c.67+1G>A
	ENST00000458205.6:c.67+1G>A
	ENST00000536378.5:c.67+1G>A
	ENST00000539477.6:c.67+1G>A
	ENST00000492474.6:c.67+1G>A
	ENST00000435176.5:c.496+1G>A
	ENST00000673715.1:c.790+1G>A
	ENST00000450420.6:c.790+1G>A
	ENST00000466900.6:c.67+1G>A
	ENST00000616768.6:c.790+1G>A
	ENST00000673673.2:c.790+1G>A
	ENST00000673899.1:c.677+2446G>A
	ENST00000673990.2:c.-140+1G>A
	ENST00000674019.1:c.67+1G>A
	ENST00000713802.1:c.691+1G>A

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	9
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		colorectal cancer	germline	MGS000060 (TMGS000107)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Ovarian cancer	germline	MGS000060 (TMGS000107)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/07/26	corpus uteri, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/07/26	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/07/26	lynch syndrome	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Lynch syndrome	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University
Pathogenic		gastric cancer	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University
Pathogenic	2020/04/20	transverse colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	unknown germline	Detail
Pathogenic	2024-01-21	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2021-09-14	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-07-01	no assertion criteria provided	Lynch-like syndrome	somatic	Detail
Pathogenic	2020-04-02	criteria provided, single submitter	Lynch syndrome 1	germline	Detail
Pathogenic	2021-09-12	no assertion criteria provided	Colonic neoplasm	germline	Detail
Pathogenic	2023-02-21	no assertion criteria provided	endometrial carcinoma	germline	Detail
Pathogenic	2023-07-17	criteria provided, multiple submitters, no conflicts	Colorectal cancer, hereditary nonpolyposis, type 2	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
Lynch syndrome		E	Predisposing	Supports	Uncertain Significance	Somatic	2	25111426	Detail

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
This variant, identified in a case of microsatellite-unstable colorectal cancer was confirmed to be ...	CIViC Evidence	Detail
NM_000249.4(MLH1):c.790+1G>A AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.790+1G>A AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.790+1G>A AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.790+1G>A AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.790+1G>A AND Lynch-like syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.790+1G>A AND Lynch syndrome 1	ClinVar	Detail
NM_000249.4(MLH1):c.790+1G>A AND Colonic neoplasm	ClinVar	Detail
NM_000249.4(MLH1):c.790+1G>A AND Endometrial carcinoma	ClinVar	Detail
NM_000249.4(MLH1):c.790+1G>A AND Colorectal cancer, hereditary nonpolyposis, type 2	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs267607789 dbSNP
Genome: hg19
Position: chr3:37,056,036-37,056,036
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): C.790+1G>A
Transcript 1 (CIViC Variant): ENST00000231790.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/731

Genome browser