chr3:37014545:G>A Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,056,036-37,056,036 View the variant detail on this assembly version.
hg38 chr3:37,014,545-37,014,545

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.790+1G>A
NM_001167617.1:c.496+1G>A
NM_001167618.1:c.67+1G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 tgv317523275 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Lynch syndrome germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
Pathogenic gastric cancer germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Pathogenic Likely pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Pathogenic 2024-01-21 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Pathogenic 2021-09-14 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2019-07-01 no assertion criteria provided Lynch-like syndrome somatic Detail
Pathogenic 2020-04-02 criteria provided, single submitter Lynch syndrome 1 germline Detail
Pathogenic 2021-09-12 no assertion criteria provided Colonic neoplasm germline Detail
Pathogenic 2023-02-21 no assertion criteria provided endometrial carcinoma germline Detail
Pathogenic 2023-07-17 criteria provided, multiple submitters, no conflicts Colorectal cancer, hereditary nonpolyposis, type 2 unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
Lynch syndrome E Predisposing Supports Uncertain Significance Somatic 2 25111426 Detail
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
This variant, identified in a case of microsatellite-unstable colorectal cancer was confirmed to be ... CIViC Evidence Detail
NM_000249.4(MLH1):c.790+1G>A AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.790+1G>A AND not provided ClinVar Detail
NM_000249.4(MLH1):c.790+1G>A AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.790+1G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.790+1G>A AND Lynch-like syndrome ClinVar Detail
NM_000249.4(MLH1):c.790+1G>A AND Lynch syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.790+1G>A AND Colonic neoplasm ClinVar Detail
NM_000249.4(MLH1):c.790+1G>A AND Endometrial carcinoma ClinVar Detail
NM_000249.4(MLH1):c.790+1G>A AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267607789 dbSNP
Genome
hg38
Position
chr3:37,014,545-37,014,545
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
C.790+1G>A
Transcript 1 (CIViC Variant)
ENST00000231790.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/731
Genome browser