chr3:36996693:A>G Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,038,184-37,038,184 View the variant detail on this assembly version.
hg38 chr3:36,996,693-36,996,693

HGVS

Type Transcript Protein
RefSeq NM_001258273.1:c.-517+3030A>G
NM_001167619.1:c.-441A>G
NM_000249.3:c.191A>G NP_000240.1:p.Asn64Ser
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 2024-01-29 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Uncertain significance 2024-01-17 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2017-06-29 criteria provided, single submitter Lynch syndrome 1 unknown Detail
Conflicting interpretations of pathogenicity 2023-02-06 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2016-03-15 criteria provided, single submitter Global developmental delay,Choreoathetosis germline Detail
Uncertain significance 2016-03-15 criteria provided, single submitter Global developmental delay,Choreoathetosis germline Detail
Uncertain significance 2023-11-30 criteria provided, multiple submitters, no conflicts Lynch syndrome germline unknown Detail
Uncertain significance 2019-01-01 criteria provided, single submitter Muir-Torré syndrome unknown Detail
Conflicting interpretations of pathogenicity 2023-09-29 criteria provided, conflicting interpretations Colorectal cancer, hereditary nonpolyposis, type 2 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

DescrptionSourceLinks
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND Lynch syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND multiple conditions ClinVar Detail
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND multiple conditions ClinVar Detail
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND Muir-Torré syndrome ClinVar Detail
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND Colorectal cancer, hereditary nonpolyposis, type 2 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
rs63750952 dbSNP
Genome
hg38
Position
chr3:36,996,693-36,996,693
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8642
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)
121140
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.952947003467063E-5
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