chr3:37048559:G>A Detail (hg38) (MLH1)

Information

Genome

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

HGVS

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
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
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

DescrptionSourceLinks
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
hg38
Position
chr3:37,048,559-37,048,559
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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