chr10:96066341:A>G Detail (hg19) (PLCE1)

Information

Genome

Assembly Position
hg19 chr10:96,066,341-96,066,341
hg38 chr10:94,306,584-94,306,584 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001288989.1:c.5780A>G NP_001275918.1:p.His1927Arg
NM_016341.3:c.5780A>G NP_057425.3:p.His1927Arg
NM_001165979.2:c.4754A>G NP_001159451.1:p.His1585Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.259
ToMMo:0.251
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.236

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 608414 OMIM
HGNC 17175 HGNC
Ensembl ENSG00000138193 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40247260 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2021-10-25 criteria provided, multiple submitters, no conflicts Nephrotic syndrome, type 3 germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2022-09-27 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 gallbladder carcinoma Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... BeFree 24863943 Detail
<0.001 gallbladder carcinoma Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs269512... BeFree 24863943 Detail
<0.001 Malignant neoplasm of gallbladder Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs269512... BeFree 24863943 Detail
0.001 Malignant neoplasm of gallbladder Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs269512... BeFree 24863943 Detail
0.245 Squamous cell carcinoma of esophagus This meta-analysis demonstrated that PLCE1 rs2274223 A &gt; G polymorphism may b... BeFree 25614244 Detail
0.124 Malignant neoplasm of stomach In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a ... BeFree 23826241 Detail
0.245 Squamous cell carcinoma of esophagus Our meta-analysis results indicated that PLCE1 rs2274223 G allele significantly ... BeFree 23874915 Detail
0.245 Squamous cell carcinoma of esophagus In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that... BeFree 23222411 Detail
0.001 gastric cardia adenocarcinoma Three large-scale genome-wide association studies (GWAS) have identified a share... BeFree 24874112 Detail
0.003 esophageal carcinoma PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-ana... BeFree 25422186 Detail
0.122 Squamous cell carcinoma of esophagus In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that... BeFree 23222411 Detail
0.004 stomach carcinoma In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a ... BeFree 23826241 Detail
0.009 squamous cell carcinoma In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a ... BeFree 23826241 Detail
0.001 Giant Cell Arteritis In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker... BeFree 24874112 Detail
<0.001 Malignant Squamous Cell Neoplasm Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal ... BeFree 22805490 Detail
<0.001 Esophageal Neoplasms A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholi... BeFree 23390063 Detail
0.130 Malignant neoplasm of stomach The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22... BeFree 24254309 Detail
0.003 esophageal carcinoma Heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus... BeFree 24127316 Detail
0.010 Esophageal Neoplasms PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-ana... BeFree 25422186 Detail
0.245 Squamous cell carcinoma of esophagus Joint analysis of three genome-wide association studies of esophageal squamous c... GWASCAT 25129146 Detail
0.123 adenocarcinoma Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal ... BeFree 22805490 Detail
0.128 Malignant neoplasm of esophagus Genome-wide association study identifies three new susceptibility loci for esoph... GWASCAT 21642993 Detail
0.245 Squamous cell carcinoma of esophagus In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker... BeFree 24874112 Detail
<0.001 Adenocarcinoma Of Esophagus In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that... BeFree 23222411 Detail
0.124 Malignant neoplasm of stomach The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22... BeFree 24254309 Detail
<0.001 Malignant neoplasm of esophagus A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholi... BeFree 23390063 Detail
0.010 Esophageal Neoplasms [Genome-wide association study identifies three new susceptibility loci for esop... GAD 21642993 Detail
0.124 Malignant neoplasm of stomach Recently, a single nucleotide polymorphism (rs2274223 A&gt;G) in PLCE1 was repor... BeFree 23797815 Detail
0.245 Squamous cell carcinoma of esophagus A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified a... BeFree 21689432 Detail
0.004 stomach carcinoma A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastri... BeFree 20729852 Detail
0.010 Esophageal Neoplasms However, three genome-wide association studies of esophageal cancer have identif... BeFree 24127316 Detail
0.010 Esophageal Neoplasms Phospholipase C epsilon 1 (PLCE1 rs2274223A&gt;G, rs3765524C&gt;T and rs7922612C... BeFree 24935391 Detail
0.003 esophageal carcinoma PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence ... BeFree 24737582 Detail
0.010 Esophageal Neoplasms PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence ... BeFree 24737582 Detail
0.004 stomach carcinoma The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22... BeFree 24254309 Detail
0.128 Malignant neoplasm of esophagus Phospholipase C epsilon 1 (PLCE1 rs2274223A&gt;G, rs3765524C&gt;T and rs7922612C... BeFree 24935391 Detail
0.011 stomach carcinoma The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22... BeFree 24254309 Detail
0.001 Giant Cell Arteritis A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified a... BeFree 21689432 Detail
0.128 Malignant neoplasm of esophagus However, three genome-wide association studies of esophageal cancer have identif... BeFree 24127316 Detail
<0.001 gastritis Herein, we aimed to evaluate associations between PSCA (C&gt;T, rs2294008; G&gt;... BeFree 25503145 Detail
0.124 Malignant neoplasm of stomach A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastri... BeFree 20729852 Detail
0.128 Malignant neoplasm of esophagus PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-ana... BeFree 25422186 Detail
0.009 squamous cell carcinoma Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal ... BeFree 22805490 Detail
0.001 gastric cardia adenocarcinoma A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified a... BeFree 21689432 Detail
<0.001 gastric cardia carcinoma In a subgroup analysis, the PLCE1 rs2274223 polymorphism was found to be a very ... BeFree 23826241 Detail
0.128 Malignant neoplasm of esophagus PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence ... BeFree 24737582 Detail
0.003 esophageal carcinoma Phospholipase C epsilon 1 (PLCE1 rs2274223A&gt;G, rs3765524C&gt;T and rs7922612C... BeFree 24935391 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND not specified ClinVar Detail
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND Nephrotic syndrome, type 3 ClinVar Detail
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND not provided ClinVar Detail
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND Focal segmental glomerulosclerosis ClinVar Detail
Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs2695121 T &gt; C), MMP-2 (... DisGeNET Detail
Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs2695121 T &gt; C), MMP-2 (... DisGeNET Detail
Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs2695121 T &gt; C), MMP-2 (... DisGeNET Detail
Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs2695121 T &gt; C), MMP-2 (... DisGeNET Detail
This meta-analysis demonstrated that PLCE1 rs2274223 A &gt; G polymorphism may be associated with in... DisGeNET Detail
In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a statistically signif... DisGeNET Detail
Our meta-analysis results indicated that PLCE1 rs2274223 G allele significantly contributed to the r... DisGeNET Detail
In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223... DisGeNET Detail
Three large-scale genome-wide association studies (GWAS) have identified a shared susceptibility var... DisGeNET Detail
PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-analysis. DisGeNET Detail
In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223... DisGeNET Detail
In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a statistically signif... DisGeNET Detail
In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a statistically signif... DisGeNET Detail
In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker for DTC susceptibil... DisGeNET Detail
Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer... DisGeNET Detail
A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholipase C epsilon gene ... DisGeNET Detail
The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22 and rs2274223A &gt;... DisGeNET Detail
Heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus infection in patien... DisGeNET Detail
PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-analysis. DisGeNET Detail
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chi... DisGeNET Detail
Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer... DisGeNET Detail
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell ... DisGeNET Detail
In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker for DTC susceptibil... DisGeNET Detail
In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223... DisGeNET Detail
The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22 and rs2274223A &gt;... DisGeNET Detail
A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholipase C epsilon gene ... DisGeNET Detail
[Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell... DisGeNET Detail
Recently, a single nucleotide polymorphism (rs2274223 A&gt;G) in PLCE1 was reported as a novel susce... DisGeNET Detail
A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibi... DisGeNET Detail
A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastric cancer (P = 8.40 x... DisGeNET Detail
However, three genome-wide association studies of esophageal cancer have identified a shared suscept... DisGeNET Detail
Phospholipase C epsilon 1 (PLCE1 rs2274223A&gt;G, rs3765524C&gt;T and rs7922612C&gt;T) polymorphisms... DisGeNET Detail
PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence based on a meta-anal... DisGeNET Detail
PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence based on a meta-anal... DisGeNET Detail
The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22 and rs2274223A &gt;... DisGeNET Detail
Phospholipase C epsilon 1 (PLCE1 rs2274223A&gt;G, rs3765524C&gt;T and rs7922612C&gt;T) polymorphisms... DisGeNET Detail
The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22 and rs2274223A &gt;... DisGeNET Detail
A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibi... DisGeNET Detail
However, three genome-wide association studies of esophageal cancer have identified a shared suscept... DisGeNET Detail
Herein, we aimed to evaluate associations between PSCA (C&gt;T, rs2294008; G&gt;A, rs2976392), MUC1 ... DisGeNET Detail
A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastric cancer (P = 8.40 x... DisGeNET Detail
PLCE1 rs2274223 polymorphism and susceptibility to esophageal cancer: a meta-analysis. DisGeNET Detail
Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer... DisGeNET Detail
A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibi... DisGeNET Detail
In a subgroup analysis, the PLCE1 rs2274223 polymorphism was found to be a very sensitive marker for... DisGeNET Detail
PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence based on a meta-anal... DisGeNET Detail
Phospholipase C epsilon 1 (PLCE1 rs2274223A&gt;G, rs3765524C&gt;T and rs7922612C&gt;T) polymorphisms... 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
rs2274223 dbSNP
Genome
hg19
Position
chr10:96,066,341-96,066,341
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
76.23
Standard deviation of sample read depth (HGVD)
38.78
Number of reference allele (HGVD)
1794
Number of alternative allele (HGVD)
626
Allele Frequency (HGVD)
0.25867768595041324
Gene Symbol (HGVD)
PLCE1
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))
rs2274223
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2506
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4200
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8590
East Asian Allele Counts (ExAC)
2024
East Asian Heterozygous Counts (ExAC)
1564
East Asian Homozygous Counts (ExAC)
230
East Asian Allele Frequency (ExAC)
0.23562281722933645
Chromosome Counts in All Race (ExAC)
120732
Allele Counts in All Race (ExAC)
34355
Heterozygous Counts in All Race (ExAC)
23929
Homozygous Counts in All Race (ExAC)
5213
Allele Frequency in All Race (ExAC)
0.28455587582413944
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