chr3:37040294:G>C Detail (hg38) (MLH1)

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

Information

Genome

Assembly	Position
hg19	chr3:37,081,785-37,081,785 View the variant detail on this assembly version.
hg38	chr3:37,040,294-37,040,294

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1667G>C	NP_000240.1:p.Ser556Thr
	NM_001167617.1:c.1373G>C	NP_001161089.1:p.Ser458Thr
	NM_001167618.1:c.944G>C	NP_001161090.1:p.Ser315Thr
	NM_001258271.1:c.1667G>C	NP_001245200.1:p.Ser556Thr
	NM_001258274.1:c.944G>C	NP_001245203.1:p.Ser315Thr
	NM_001258273.1:c.944G>C	NP_001245202.1:p.Ser315Thr
	NM_001167619.1:c.944G>C	NP_001161091.1:p.Ser315Thr
Ensemble	ENST00000231790.8:c.1667G>C	ENST00000231790.8:p.Ser556Thr
	ENST00000435176.5:c.1373G>C	ENST00000435176.5:p.Ser458Thr
	ENST00000441265.6:c.944G>C	ENST00000441265.6:p.Arg315Thr
	ENST00000450420.6:c.1559-10192G>C
	ENST00000455445.6:c.944G>C	ENST00000455445.6:p.Ser315Thr
	ENST00000456676.7:c.1667G>C	ENST00000456676.7:p.Ser556Thr
	ENST00000458205.6:c.944G>C	ENST00000458205.6:p.Ser315Thr
	ENST00000466900.6:c.944G>C	ENST00000466900.6:p.Ser315Thr
	ENST00000485889.2:c.944G>C	ENST00000485889.2:p.Ser315Thr
	ENST00000492474.6:c.944G>C	ENST00000492474.6:p.Ser315Thr
	ENST00000536378.5:c.944G>C	ENST00000536378.5:p.Ser315Thr
	ENST00000539477.6:c.944G>C	ENST00000539477.6:p.Ser315Thr
	ENST00000616768.6:c.1667G>C	ENST00000616768.6:p.Ser556Thr
	ENST00000673673.2:c.1667G>C	ENST00000673673.2:p.Ser556Thr
	ENST00000673715.1:c.1667G>C	ENST00000673715.1:p.Ser556Thr
	ENST00000673899.1:c.935G>C	ENST00000673899.1:p.Ser312Thr
	ENST00000673990.2:c.644G>C	ENST00000673990.2:p.Ser215Thr
	ENST00000674019.1:c.944G>C	ENST00000674019.1:p.Ser315Thr
	ENST00000713802.1:c.1568G>C	ENST00000713802.1:p.Ser523Thr

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
Pathogenic Likely pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2023-07-17	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Uncertain significance	2020-07-20	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2022-02-02	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Likely pathogenic	2024-02-01	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.1667G>C (p.Ser556Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) AND not specified	ClinVar	Detail
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) AND Familial cancer of breast	ClinVar	Detail
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) 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: rs63751596 dbSNP
Genome: hg38
Position: chr3:37,040,294-37,040,294
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8612
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): 121252
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): 8.247286642694553E-6

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