chr3:37028891:T>C 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	chr3:37,070,382-37,070,382 View the variant detail on this assembly version.
hg38	chr3:37,028,891-37,028,891

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1517T>C	NP_000240.1:p.Val506Ala
	NM_001167617.1:c.1223T>C	NP_001161089.1:p.Val408Ala
	NM_001167618.1:c.794T>C	NP_001161090.1:p.Val265Ala
	NM_001258271.1:c.1517T>C	NP_001245200.1:p.Val506Ala
	NM_001258274.1:c.794T>C	NP_001245203.1:p.Val265Ala
	NM_001258273.1:c.794T>C	NP_001245202.1:p.Val265Ala
	NM_001167619.1:c.794T>C	NP_001161091.1:p.Val265Ala
Ensemble	ENST00000231790.8:c.1517T>C	ENST00000231790.8:p.Val506Ala
	ENST00000435176.5:c.1223T>C	ENST00000435176.5:p.Val408Ala
	ENST00000441265.6:c.794T>C	ENST00000441265.6:p.Val265Ala
	ENST00000450420.6:c.1517T>C	ENST00000450420.6:p.Val506Ala
	ENST00000455445.6:c.794T>C	ENST00000455445.6:p.Val265Ala
	ENST00000456676.7:c.1517T>C	ENST00000456676.7:p.Val506Ala
	ENST00000458205.6:c.794T>C	ENST00000458205.6:p.Val265Ala
	ENST00000466900.6:c.794T>C	ENST00000466900.6:p.Val265Ala
	ENST00000485889.2:c.794T>C	ENST00000485889.2:p.Val265Ala
	ENST00000492474.6:c.794T>C	ENST00000492474.6:p.Val265Ala
	ENST00000536378.5:c.794T>C	ENST00000536378.5:p.Val265Ala
	ENST00000539477.6:c.794T>C	ENST00000539477.6:p.Val265Ala
	ENST00000616768.6:c.1517T>C	ENST00000616768.6:p.Val506Ala
	ENST00000673673.2:c.1517T>C	ENST00000673673.2:p.Val506Ala
	ENST00000673715.1:c.1517T>C	ENST00000673715.1:p.Val506Ala
	ENST00000673899.1:c.785T>C	ENST00000673899.1:p.Val262Ala
	ENST00000673990.2:c.494T>C	ENST00000673990.2:p.Val165Ala
	ENST00000674019.1:c.794T>C	ENST00000674019.1:p.Val265Ala
	ENST00000713802.1:c.1418T>C	ENST00000713802.1:p.Val473Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	2023-04-26	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2023-09-05	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Likely pathogenic	2019-06-06	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2024-01-27	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Likely pathogenic	2023-03-27	criteria provided, single submitter	Hereditary nonpolyposis colon cancer	germline	Detail
Likely pathogenic	2023-03-01	criteria provided, single submitter	MLH1-related disorder	germline	Detail
Likely pathogenic	2023-09-05	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
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) AND not specified	ClinVar	Detail
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) AND Hereditary nonpolyposis colon cancer	ClinVar	Detail
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) AND MLH1-related disorder	ClinVar	Detail
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) AND Colorectal cancer, hereditary nonpolyposis, type 2	ClinVar	Detail
NA	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: rs63749909 dbSNP
Genome: hg38
Position: chr3:37,028,891-37,028,891
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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