chr3:37059050:G>A 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	chr3:37,059,050-37,059,050
hg38	chr3:37,017,559-37,017,559 View the variant detail on this assembly version.

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.844G>A	NP_000240.1:p.Ala282Thr
	NM_001167617.1:c.550G>A	NP_001161089.1:p.Ala184Thr
	NM_001167618.1:c.121G>A	NP_001161090.1:p.Ala41Thr
	NM_001258271.1:c.844G>A	NP_001245200.1:p.Ala282Thr
	NM_001258274.1:c.121G>A	NP_001245203.1:p.Ala41Thr
	NM_001258273.1:c.121G>A	NP_001245202.1:p.Ala41Thr
	NM_001167619.1:c.121G>A	NP_001161091.1:p.Ala41Thr
Ensemble	ENST00000231790.8:c.844G>A	ENST00000231790.8:p.Ala282Thr
	ENST00000435176.5:c.550G>A	ENST00000435176.5:p.Ala184Thr
	ENST00000441265.6:c.121G>A	ENST00000441265.6:p.Ala41Thr
	ENST00000450420.6:c.844G>A	ENST00000450420.6:p.Ala282Thr
	ENST00000455445.6:c.121G>A	ENST00000455445.6:p.Ala41Thr
	ENST00000456676.7:c.844G>A	ENST00000456676.7:p.Ala282Thr
	ENST00000458205.6:c.121G>A	ENST00000458205.6:p.Ala41Thr
	ENST00000466900.6:c.121G>A	ENST00000466900.6:p.Ala41Thr
	ENST00000485889.2:c.121G>A	ENST00000485889.2:p.Ala41Thr
	ENST00000492474.6:c.121G>A	ENST00000492474.6:p.Ala41Thr
	ENST00000536378.5:c.121G>A	ENST00000536378.5:p.Ala41Thr
	ENST00000539477.6:c.121G>A	ENST00000539477.6:p.Ala41Thr
	ENST00000616768.6:c.844G>A	ENST00000616768.6:p.Ala282Thr
	ENST00000673673.2:c.844G>A	ENST00000673673.2:p.Ala282Thr
	ENST00000673715.1:c.844G>A	ENST00000673715.1:p.Ala282Thr
	ENST00000673899.1:c.677+5460G>A
	ENST00000673990.2:c.-139-2751G>A
	ENST00000674019.1:c.121G>A	ENST00000674019.1:p.Ala41Thr
	ENST00000713802.1:c.745G>A	ENST00000713802.1:p.Ala249Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2024-01-16	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Uncertain significance	2023-06-30	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome	unknown	Detail
Uncertain significance		no assertion criteria provided	not provided	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND multiple conditions	ClinVar	Detail
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND multiple conditions	ClinVar	Detail
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND multiple conditions	ClinVar	Detail
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND not provided	ClinVar	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: rs774689817 dbSNP
Genome: hg19
Position: chr3:37,059,050-37,059,050
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121410
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236553825879253E-6

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