chr1:45331556:C>T Detail (hg38) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,797,228-45,797,228 View the variant detail on this assembly version.
hg38 chr1:45,331,556-45,331,556

HGVS

Type Transcript Protein
RefSeq NM_001048172.1:c.1103G>A NP_001041637.1:p.Gly368Asp
NM_001048173.1:c.1103G>A NP_001041638.1:p.Gly368Asp
NM_001293196.1:c.1103G>A NP_001280125.1:p.Gly368Asp
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 604933 OMIM
HGNC 7527 HGNC
Ensembl ENSG00000132781 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv298240770 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-04-02 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline maternal unknown Detail
Pathogenic 2011-09-01 no assertion criteria provided endometrial cancer germline Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2023-12-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
not provided 2013-09-19 no assertion provided not specified germline Detail
Pathogenic 2014-07-24 no assertion criteria provided Carcinoma of colon germline unknown Detail
Pathogenic 2015-06-04 no assertion criteria provided Neoplasm of stomach,familial adenomatous polyposis 2 germline Detail
Pathogenic 2015-06-04 no assertion criteria provided Neoplasm of stomach,familial adenomatous polyposis 2 germline Detail
Likely pathogenic 2017-03-09 no assertion criteria provided germline Detail
Pathogenic 2016-08-26 criteria provided, single submitter Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas germline Detail
Pathogenic 2017-05-18 criteria provided, single submitter familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma unknown Detail
Pathogenic 2019-01-01 criteria provided, single submitter unknown Detail
Pathogenic 2021-08-20 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 2021-08-23 no assertion criteria provided germline Detail
Pathogenic 2022-03-25 criteria provided, single submitter Familial colorectal cancer germline Detail
Pathogenic 2024-02-21 criteria provided, single submitter MUTYH-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.480 Colorectal Adenomatous Polyposis, Autosomal Recessive NA CLINVAR Detail
0.122 colon carcinoma NA CLINVAR Detail
0.121 endometrial carcinoma NA CLINVAR Detail
0.480 Colorectal Adenomatous Polyposis, Autosomal Recessive Inherited variants of MYH associated with somatic G:C--&gt;T:A mutations in colo... UNIPROT 11818965 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Endometrial cancer ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND not specified ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Carcinoma of colon ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Small intestine carcinoid ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Colorectal adenomatous polyposis, autosomal recess... ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Ovarian carcinoma ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Breast carcinoma ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Colon cancer ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Familial colorectal cancer ClinVar Detail
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND MUTYH-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Inherited variants of MYH associated with somatic G:C--&gt;T:A mutations in colorectal tumors. 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
rs36053993 dbSNP
Genome
hg38
Position
chr1:45,331,556-45,331,556
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8598
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1630611770179111E-4
Chromosome Counts in All Race (ExAC)
119368
Allele Counts in All Race (ExAC)
334
Heterozygous Counts in All Race (ExAC)
330
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.002798069834461497
Genome browser