chr2:47798963:C>G Detail (hg38) (MSH6, FBXO11)

Information

Genome

Assembly Position
hg19 chr2:48,026,102-48,026,102 View the variant detail on this assembly version.
hg38 chr2:47,798,963-47,798,963

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000405808.5:c.169+9232G>C
Type Transcript Protein
RefSeq NM_000179.2:c.980C>G NP_000170.1:p.Thr327Ser
NM_001281492.1:c.590C>G NP_001268421.1:p.Thr197Ser
Ensemble ENST00000234420.11:c.980C>G ENST00000234420.11:p.Thr327Ser
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 607871 OMIM
HGNC 13590 HGNC
Ensembl ENSG00000138081 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-02-12 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2024-02-01 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2022-06-01 criteria provided, single submitter Lynch syndrome 5 germline Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Uncertain significance 2023-10-27 criteria provided, single submitter Lynch syndrome germline Detail
Uncertain significance 2023-07-02 criteria provided, single submitter MSH6-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) AND not provided ClinVar Detail
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) AND Lynch syndrome 5 ClinVar Detail
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) AND Breast and/or ovarian cancer ClinVar Detail
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) AND Lynch syndrome ClinVar Detail
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) AND MSH6-related disorder ClinVar 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
rs369568820 dbSNP
Genome
hg38
Position
chr2:47,798,963-47,798,963
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8652
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)
121236
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6496750140222375E-5
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