chr3:37092019:G>A Detail (hg19) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,092,019-37,092,019
hg38 chr3:37,050,528-37,050,528 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.2146G>A NP_000240.1:p.Val716Met
NM_001167617.1:c.1852G>A NP_001161089.1:p.Val618Met
NM_001167618.1:c.1423G>A NP_001161090.1:p.Val475Met
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 Benign
Review star
Show details
Links
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 COSM6987286 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Benign 2023-01-24 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign Likely benign 2019-05-28 criteria provided, multiple submitters, no conflicts Colorectal cancer, hereditary nonpolyposis, type 2 germline unknown Detail
Benign 2024-02-01 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Benign no assertion criteria provided germline Detail
Likely benign 2022-12-16 criteria provided, single submitter Breast and/or ovarian cancer 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

DescrptionSourceLinks
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND not specified ClinVar Detail
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar Detail
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Malignant tumor of breast ClinVar Detail
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Breast and/or ovarian cancer 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
rs35831931 dbSNP
Genome
hg19
Position
chr3:37,092,019-37,092,019
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8590
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)
121234
Allele Counts in All Race (ExAC)
148
Heterozygous Counts in All Race (ExAC)
148
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.001220779649273306
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