chr3:37090053:C>T 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	chr3:37,090,053-37,090,053
hg38	chr3:37,048,562-37,048,562 View the variant detail on this assembly version.

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1942C>T	NP_000240.1:p.Pro648Ser
	NM_001167617.1:c.1648C>T	NP_001161089.1:p.Pro550Ser
	NM_001167618.1:c.1219C>T	NP_001161090.1:p.Pro407Ser
	NM_001258271.1:c.1896+879C>T
	NM_001258274.1:c.1219C>T	NP_001245203.1:p.Pro407Ser
	NM_001258273.1:c.1219C>T	NP_001245202.1:p.Pro407Ser
	NM_001167619.1:c.1219C>T	NP_001161091.1:p.Pro407Ser
Ensemble	ENST00000231790.8:c.1942C>T	ENST00000231790.8:p.Pro648Ser
	ENST00000435176.5:c.1648C>T	ENST00000435176.5:p.Pro550Ser
	ENST00000450420.6:c.1559-1924C>T
	ENST00000455445.6:c.1219C>T	ENST00000455445.6:p.Pro407Ser
	ENST00000456676.7:c.1896+879C>T
	ENST00000458205.6:c.1219C>T	ENST00000458205.6:p.Pro407Ser
	ENST00000466900.6:c.1219C>T	ENST00000466900.6:p.Pro407Ser
	ENST00000485889.2:c.1219C>T	ENST00000485889.2:p.Pro407Ser
	ENST00000492474.6:c.1219C>T	ENST00000492474.6:p.Pro407Ser
	ENST00000536378.5:c.1219C>T	ENST00000536378.5:p.Pro407Ser
	ENST00000539477.6:c.1219C>T	ENST00000539477.6:p.Pro407Ser
	ENST00000616768.6:c.1897-342C>T
	ENST00000673673.2:c.1777C>T	ENST00000673673.2:p.Pro593Ser
	ENST00000673899.1:c.1210C>T	ENST00000673899.1:p.Pro404Ser
	ENST00000673990.2:c.919C>T	ENST00000673990.2:p.Pro307Ser
	ENST00000674019.1:c.1219C>T	ENST00000674019.1:p.Pro407Ser
	ENST00000713802.1:c.1843C>T	ENST00000713802.1:p.Pro615Ser

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-07-24	criteria provided, single submitter	Colorectal cancer, hereditary nonpolyposis, type 2	germline unknown	Detail
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic	2018-03-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-11-21	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2004-07-01	no assertion criteria provided	Mismatch repair cancer syndrome 1	germline	Detail
Pathogenic	2019-12-27	criteria provided, single submitter	not provided	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.492	Turcot syndrome (disorder)	NA	CLINVAR		Detail
0.440	Hereditary Non-Polyposis Colon Cancer Type 2	NA	CLINVAR		Detail
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.002	neurofibromatosis 1	HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosit...	BeFree	15139004	Detail
0.329	Hereditary Nonpolyposis Colorectal Cancer	HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosit...	BeFree	15139004	Detail
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) AND Colorectal cancer, hereditary nonpolyposis, type 2	ClinVar	Detail
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) AND Mismatch repair cancer syndrome 1	ClinVar	Detail
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mil...	DisGeNET	Detail
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mil...	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: rs63750899 dbSNP
Genome: hg19
Position: chr3:37,090,053-37,090,053
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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