chr1:155162067:C>T Detail (hg19) (MUC1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:155,162,067-155,162,067
hg38	chr1:155,192,276-155,192,276 View the variant detail on this assembly version.

HGVS

MUC1

Type	Transcript	Protein
RefSeq	NM_001204285.1:c.66G>A	NP_001191214.1:p.Thr22=
	NM_001044391.2:c.93G>A	NP_001037856.1:p.Thr31=
	NM_001044392.2:c.93G>A	NP_001037857.1:p.Thr31=
	NM_001204295.1:c.93G>A	NP_001191224.1:p.Thr31=
	NM_001018016.2:c.93G>A	NP_001018016.1:p.Thr31=
	NM_001018017.2:c.93G>A	NP_001018017.1:p.Thr31=
	NM_001204287.1:c.93G>A	NP_001191216.1:p.Thr31=
	NM_001204288.1:c.93G>A	NP_001191217.1:p.Thr31=
	NM_001204289.1:c.93G>A	NP_001191218.1:p.Thr31=
	NM_001204290.1:c.93G>A	NP_001191219.1:p.Thr31=
	NM_001204291.1:c.93G>A	NP_001191220.1:p.Thr31=
	NM_001204297.1:c.66G>A	NP_001191226.1:p.Thr22=
	NM_001204293.1:c.66G>A	NP_001191222.1:p.Thr22=
	NM_001204294.1:c.66G>A	NP_001191223.1:p.Thr22=
	NM_001204292.1:c.93G>A	NP_001191221.1:p.Thr31=
	NM_002456.5:c.66G>A	NP_002447.4:p.Thr22=
Ensemble	ENST00000471283.5:c.66G>A	ENST00000471283.5:p.Thr22=
	ENST00000620103.4:c.66G>A	ENST00000620103.4:p.Thr22=
	ENST00000615517.4:c.93G>A	ENST00000615517.4:p.Thr31=
	ENST00000457295.6:c.93G>A	ENST00000457295.6:p.Thr31=
	ENST00000368392.7:c.93G>A	ENST00000368392.7:p.Thr31=
	ENST00000343256.9:c.66G>A	ENST00000343256.9:p.Thr22=
	ENST00000338684.9:c.93G>A	ENST00000338684.9:p.Thr31=
	ENST00000368389.6:c.66G>A	ENST00000368389.6:p.Thr22=
	ENST00000368396.8:c.93G>A	ENST00000368396.8:p.Thr31=
	ENST00000342482.8:c.93G>A	ENST00000342482.8:p.Thr31=
	ENST00000368390.7:c.66G>A	ENST00000368390.7:p.Thr22=
	ENST00000368393.7:c.66G>A	ENST00000368393.7:p.Thr22=
	ENST00000368398.7:c.66G>A	ENST00000368398.7:p.Thr22=
	ENST00000610359.4:c.93G>A	ENST00000610359.4:p.Thr31=
	ENST00000438413.5:c.66G>A	ENST00000438413.5:p.Thr22=
	ENST00000337604.6:c.66G>A	ENST00000337604.6:p.Thr22=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.815
	ToMMo:0.840
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.784

Prediction

ClinVar

Clinical Significance	Benign
Review star
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Links

MUC1

Type	Database	ID	Link
Gene	MIM	158340	OMIM
	HGNC	7508	HGNC
	Ensembl	ENSG00000185499	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv3322965	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2021-09-05	criteria provided, single submitter	Tubulointerstitial kidney disease, autosomal dominant, 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Malignant neoplasm of stomach	The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22...	BeFree	24254309	Detail
0.124	Malignant neoplasm of stomach	The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22...	BeFree	24254309	Detail
0.004	stomach carcinoma	The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22...	BeFree	24254309	Detail
0.011	stomach carcinoma	The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22...	BeFree	24254309	Detail
<0.001	gastritis	Herein, we aimed to evaluate associations between PSCA (C>T, rs2294008; G>...	BeFree	25503145	Detail
0.008	gastritis	Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are asso...	BeFree	25503145	Detail
<0.001	gastritis	Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are asso...	BeFree	25503145	Detail
0.130	Malignant neoplasm of stomach	In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker fo...	BeFree	24755768	Detail
0.135	Stomach Neoplasms	[A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and ...	GAD	20729852	Detail
0.011	stomach carcinoma	The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i...	BeFree	22805490	Detail
0.130	Malignant neoplasm of stomach	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and e...	GWASCAT	20729852	Detail
0.130	Malignant neoplasm of stomach	Functional polymorphism rs4072037 in MUC1 gene contributes to the susceptibility...	BeFree	24072653	Detail
0.011	stomach carcinoma	Functional polymorphism rs4072037 in MUC1 gene contributes to the susceptibility...	BeFree	24072653	Detail
0.005	squamous cell carcinoma	The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i...	BeFree	22805490	Detail
0.011	stomach carcinoma	In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker fo...	BeFree	24755768	Detail
<0.001	Malignant Squamous Cell Neoplasm	The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i...	BeFree	22805490	Detail
0.130	Malignant neoplasm of stomach	The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i...	BeFree	22805490	Detail
0.036	adenocarcinoma	The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i...	BeFree	22805490	Detail
0.121	Malignant neoplasm of esophagus	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and e...	GWASCAT	20729852	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001204286.1(MUC1):c.93G>A (p.Thr31=) AND Tubulointerstitial kidney disease, autosomal dominant, 2	ClinVar	Detail
The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A >...	DisGeNET	Detail
The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A >...	DisGeNET	Detail
The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A >...	DisGeNET	Detail
The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A >...	DisGeNET	Detail
Herein, we aimed to evaluate associations between PSCA (C>T, rs2294008; G>A, rs2976392), MUC1 ...	DisGeNET	Detail
Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are associated with GC and H...	DisGeNET	Detail
Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are associated with GC and H...	DisGeNET	Detail
In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker for cancer susceptibil...	DisGeNET	Detail
[A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous ...	DisGeNET	Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic...	DisGeNET	Detail
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous c...	DisGeNET	Detail
Functional polymorphism rs4072037 in MUC1 gene contributes to the susceptibility to gastric cancer: ...	DisGeNET	Detail
Functional polymorphism rs4072037 in MUC1 gene contributes to the susceptibility to gastric cancer: ...	DisGeNET	Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic...	DisGeNET	Detail
In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker for cancer susceptibil...	DisGeNET	Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic...	DisGeNET	Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic...	DisGeNET	Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic...	DisGeNET	Detail
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous c...	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: rs4072037 dbSNP
Genome: hg19
Position: chr1:155,162,067-155,162,067
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): PASS
# of samples (HGVD): 1200
Mean of sample read depth (HGVD): 70.39
Standard deviation of sample read depth (HGVD): 32.36
Number of reference allele (HGVD): 443
Number of alternative allele (HGVD): 1954
Allele Frequency (HGVD): 0.8151856487275762
Gene Symbol (HGVD): MUC1
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)): rs4072037
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.8398
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 14073
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 6780
East Asian Heterozygous Counts (ExAC): 1462
East Asian Homozygous Counts (ExAC): 2659
East Asian Allele Frequency (ExAC): 0.7838150289017342
Chromosome Counts in All Race (ExAC): 121120
Allele Counts in All Race (ExAC): 70125
Heterozygous Counts in All Race (ExAC): 28697
Homozygous Counts in All Race (ExAC): 20714
Allele Frequency in All Race (ExAC): 0.5789712681638045

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