chr3:37050595:G>A 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	chr3:37,092,086-37,092,086 View the variant detail on this assembly version.
hg38	chr3:37,050,595-37,050,595

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.2213G>A	NP_000240.1:p.Gly738Glu
	NM_001167617.1:c.1919G>A	NP_001161089.1:p.Gly640Glu
	NM_001167618.1:c.1490G>A	NP_001161090.1:p.Gly497Glu
	NM_001258271.1:c.2006G>A	NP_001245200.1:p.Gly669Glu
	NM_001258274.1:c.1490G>A	NP_001245203.1:p.Gly497Glu
	NM_001258273.1:c.1490G>A	NP_001245202.1:p.Gly497Glu
	NM_001167619.1:c.1490G>A	NP_001161091.1:p.Gly497Glu
Ensemble	ENST00000231790.8:c.2213G>A	ENST00000231790.8:p.Gly738Glu
	ENST00000435176.5:c.1919G>A	ENST00000435176.5:p.Gly640Glu
	ENST00000455445.6:c.1490G>A	ENST00000455445.6:p.Gly497Glu
	ENST00000456676.7:c.2006G>A	ENST00000456676.7:p.Gly669Glu
	ENST00000458205.6:c.1490G>A	ENST00000458205.6:p.Gly497Glu
	ENST00000466900.6:c.1490G>A	ENST00000466900.6:p.Gly497Glu
	ENST00000485889.2:c.1490G>A	ENST00000485889.2:p.Gly497Glu
	ENST00000492474.6:c.1490G>A	ENST00000492474.6:p.Gly497Glu
	ENST00000536378.5:c.1490G>A	ENST00000536378.5:p.Gly497Glu
	ENST00000539477.6:c.1490G>A	ENST00000539477.6:p.Gly497Glu
	ENST00000616768.6:c.2120G>A	ENST00000616768.6:p.Gly707Glu
	ENST00000673673.2:c.2048G>A	ENST00000673673.2:p.Gly683Glu
	ENST00000673899.1:c.1481G>A	ENST00000673899.1:p.Gly494Glu
	ENST00000673990.2:c.1190G>A	ENST00000673990.2:p.Gly397Glu
	ENST00000674019.1:c.1490G>A	ENST00000674019.1:p.Gly497Glu
	ENST00000713802.1:c.2114G>A	ENST00000713802.1:p.Gly705Glu

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	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	tgv317524532	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-02-24	criteria provided, multiple submitters, no conflicts	Lynch syndrome	germline	Detail
Uncertain significance	2022-08-08	criteria provided, single submitter	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2023-03-15	criteria provided, conflicting interpretations	Colorectal cancer, hereditary nonpolyposis, type 2	unknown	Detail
Uncertain significance	2024-01-24	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Uncertain significance	2023-12-08	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-02-16	criteria provided, multiple submitters, no conflicts	not provided	germline 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.2213G>A (p.Gly738Glu) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) AND not specified	ClinVar	Detail
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) AND Colorectal cancer, hereditary nonpolyposis, type 2	ClinVar	Detail
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) AND not provided	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: rs148317871 dbSNP
Genome: hg38
Position: chr3:37,050,595-37,050,595
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8616
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): 121360
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): 8.239947264337508E-6

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