chr11:108223106:G>A Detail (hg38) (ATM, LOC130006700)

Information

Genome

Assembly Position
hg19 chr11:108,093,833-108,093,833 View the variant detail on this assembly version.
hg38 chr11:108,223,106-108,223,106

HGVS

Type Transcript Protein
RefSeq NM_001351834.1:c.-199G>A
Ensemble ENST00000452508.7:c.-199G>A
ENST00000530958.5:c.-4519G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.424
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43958293 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-22 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Azoospermia, Nonobstructive rs189037, a functional variant in ATM gene promoter, is associated with idiopath... BeFree 23993922 Detail
<0.001 Impaired cognition Association between the rs189037 single nucleotide polymorphism in the ATM gene ... BeFree 25966232 Detail
0.002 coronary artery disease Polymorphism rs189037 may influence the expression of ATM mRNA in CAD patients. BeFree 21937043 Detail
0.005 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.021 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.020 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
<0.001 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
<0.001 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.214 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.100 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
<0.001 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.010 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.003 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.014 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
<0.001 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.-111G>A AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.-111G>A AND not provided ClinVar Detail
rs189037, a functional variant in ATM gene promoter, is associated with idiopathic nonobstructive az... DisGeNET Detail
Association between the rs189037 single nucleotide polymorphism in the ATM gene promoter and cogniti... DisGeNET Detail
Polymorphism rs189037 may influence the expression of ATM mRNA in CAD patients. DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... 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
rs189037 dbSNP
Genome
hg38
Position
chr11:108,223,106-108,223,106
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs189037
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4244
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7112
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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