chr3:37048979:C>T Detail (hg38) (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	chr3:37,090,470-37,090,470 View the variant detail on this assembly version.
hg38	chr3:37,048,979-37,048,979

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_001258271.1:c.1896+1296C>T
	NM_000249.3:c.2065C>T	NP_000240.1:p.Gln689Ter
	NM_001167617.1:c.1771C>T	NP_001161089.1:p.Gln591Ter
	NM_001167618.1:c.1342C>T	NP_001161090.1:p.Gln448Ter
	NM_001258274.1:c.1342C>T	NP_001245203.1:p.Gln448Ter
	NM_001258273.1:c.1342C>T	NP_001245202.1:p.Gln448Ter
	NM_001167619.1:c.1342C>T	NP_001161091.1:p.Gln448Ter
Ensemble	ENST00000674019.1:c.1342C>T	ENST00000674019.1:p.Gln448Ter
	ENST00000713802.1:c.1966C>T	ENST00000713802.1:p.Gln656Ter
	ENST00000456676.7:c.1896+1296C>T
	ENST00000231790.8:c.2065C>T	ENST00000231790.8:p.Gln689Ter
	ENST00000435176.5:c.1771C>T	ENST00000435176.5:p.Gln591Ter
	ENST00000450420.6:c.1559-1507C>T
	ENST00000455445.6:c.1342C>T	ENST00000455445.6:p.Gln448Ter
	ENST00000458205.6:c.1342C>T	ENST00000458205.6:p.Gln448Ter
	ENST00000466900.6:c.1342C>T	ENST00000466900.6:p.Gln448Ter
	ENST00000485889.2:c.1342C>T	ENST00000485889.2:p.Gln448Ter
	ENST00000492474.6:c.1342C>T	ENST00000492474.6:p.Gln448Ter
	ENST00000536378.5:c.1342C>T	ENST00000536378.5:p.Gln448Ter
	ENST00000539477.6:c.1342C>T	ENST00000539477.6:p.Gln448Ter
	ENST00000616768.6:c.1972C>T	ENST00000616768.6:p.Gln658Ter
	ENST00000673673.2:c.1900C>T	ENST00000673673.2:p.Gln634Ter
	ENST00000673899.1:c.1333C>T	ENST00000673899.1:p.Gln445Ter
	ENST00000673990.2:c.1042C>T	ENST00000673990.2:p.Gln348Ter

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	COSM6978768	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-07-01	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-08-20	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2018-07-02	criteria provided, single submitter	Lynch syndrome	unknown	Detail
Pathogenic	2019-09-30	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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.2065C>T (p.Gln689Ter) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) 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: rs41542214 dbSNP
Genome: hg38
Position: chr3:37,048,979-37,048,979
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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