chr3:37090050:G>A Detail (hg19) (MLH1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr3:37,090,050-37,090,050
hg38	chr3:37,048,559-37,048,559 View the variant detail on this assembly version.

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1939G>A	NP_000240.1:p.Val647Met
	NM_001167617.1:c.1645G>A	NP_001161089.1:p.Val549Met
	NM_001167618.1:c.1216G>A	NP_001161090.1:p.Val406Met
	NM_001258271.1:c.1896+876G>A
	NM_001258274.1:c.1216G>A	NP_001245203.1:p.Val406Met
	NM_001258273.1:c.1216G>A	NP_001245202.1:p.Val406Met
	NM_001167619.1:c.1216G>A	NP_001161091.1:p.Val406Met
Ensemble	ENST00000231790.8:c.1939G>A	ENST00000231790.8:p.Val647Met
	ENST00000435176.5:c.1645G>A	ENST00000435176.5:p.Val549Met
	ENST00000450420.6:c.1559-1927G>A
	ENST00000455445.6:c.1216G>A	ENST00000455445.6:p.Val406Met
	ENST00000456676.7:c.1896+876G>A
	ENST00000458205.6:c.1216G>A	ENST00000458205.6:p.Val406Met
	ENST00000466900.6:c.1216G>A	ENST00000466900.6:p.Val406Met
	ENST00000485889.2:c.1216G>A	ENST00000485889.2:p.Val406Met
	ENST00000492474.6:c.1216G>A	ENST00000492474.6:p.Val406Met
	ENST00000536378.5:c.1216G>A	ENST00000536378.5:p.Val406Met
	ENST00000539477.6:c.1216G>A	ENST00000539477.6:p.Val406Met
	ENST00000616768.6:c.1897-345G>A
	ENST00000673673.2:c.1774G>A	ENST00000673673.2:p.Val592Met
	ENST00000673899.1:c.1207G>A	ENST00000673899.1:p.Val403Met
	ENST00000673990.2:c.916G>A	ENST00000673990.2:p.Val306Met
	ENST00000674019.1:c.1216G>A	ENST00000674019.1:p.Val406Met
	ENST00000713802.1:c.1840G>A	ENST00000713802.1:p.Val614Met

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-06-08	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2023-09-26	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Hereditary pancreatitis	Second, the samples from Finnish hereditary prostate cancer (HPC) families were ...	BeFree	16963262	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.1939G>A (p.Val647Met) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1939G>A (p.Val647Met) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
Second, the samples from Finnish hereditary prostate cancer (HPC) families were used for the screeni...	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: rs63750109 dbSNP
Genome: hg19
Position: chr3:37,090,050-37,090,050
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8644
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): 121402
Allele Counts in All Race (ExAC): 18
Heterozygous Counts in All Race (ExAC): 18
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.4826773858750268E-4

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