chr2:48030670:G>A Detail (hg19) (MSH6, FBXO11)

Information

Genome

Assembly Position
hg19 chr2:48,030,670-48,030,670
hg38 chr2:47,803,531-47,803,531 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000405808.5:c.169+4664C>T
Type Transcript Protein
RefSeq NM_001281492.1:c.2894G>A NP_001268421.1:p.Arg965His
NM_000179.2:c.3284G>A NP_000170.1:p.Arg1095His
Ensemble ENST00000540021.6:c.2894G>A ENST00000540021.6:p.Arg965His
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 607871 OMIM
HGNC 13590 HGNC
Ensembl ENSG00000138081 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM190065 COSMIC
MONDO
Type Database ID Link
Gene MIM 600678 OMIM
HGNC 7329 HGNC
Ensembl ENSG00000116062 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM190065 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-11-29 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2023-03-29 criteria provided, conflicting interpretations Lynch syndrome 5 unknown Detail
Uncertain significance 2023-10-30 criteria provided, single submitter not specified germline Detail
Likely benign 2024-01-31 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Conflicting interpretations of pathogenicity 2022-11-03 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2024-02-05 criteria provided, single submitter Lynch syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.277 Hereditary Nonpolyposis Colorectal Cancer We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH... BeFree 24040339 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) AND Lynch syndrome 5 ClinVar Detail
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) AND not specified ClinVar Detail
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) AND not provided ClinVar Detail
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) AND Lynch syndrome ClinVar Detail
We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095... 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
rs63750253 dbSNP
Genome
hg19
Position
chr2:48,030,670-48,030,670
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
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)
121372
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.2956530336486173E-5
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