chr1:45331729:G>A Detail (hg38) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,797,401-45,797,401 View the variant detail on this assembly version.
hg38 chr1:45,331,729-45,331,729

HGVS

Type Transcript Protein
RefSeq NM_001048172.1:c.1034C>T NP_001041637.1:p.Ala345Val
NM_001048173.1:c.1034C>T NP_001041638.1:p.Ala345Val
NM_001293196.1:c.1034C>T NP_001280125.1:p.Ala345Val
Summary

MGeND

Clinical significance Benign Uncertain significance other
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.009
ToMMo:0.008
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.005

Prediction

ClinVar

Clinical Significance Benign Likely benign
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 tgv1349231 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2020/07/11 duodenum germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2020/07/11 other germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2020/07/11 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
other 2017/12/14 giant cell tumor of bone germline MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline unknown Detail
Benign Likely benign 2021-05-16 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2019-03-28 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
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND not specified ClinVar Detail
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND MUTYH-related disorder 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
rs35352891 dbSNP
Genome
hg38
Position
chr1:45,331,729-45,331,729
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
186.25
Standard deviation of sample read depth (HGVD)
86.01
Number of reference allele (HGVD)
2396
Number of alternative allele (HGVD)
22
Allele Frequency (HGVD)
0.009098428453267164
Gene Symbol (HGVD)
MUTYH
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs35352891
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0077
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
129
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8600
East Asian Allele Counts (ExAC)
40
East Asian Heterozygous Counts (ExAC)
40
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.004651162790697674
Chromosome Counts in All Race (ExAC)
119474
Allele Counts in All Race (ExAC)
46
Heterozygous Counts in All Race (ExAC)
46
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.8502100875504295E-4
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