chr11:108143456:C>G Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,143,456-108,143,456
hg38 chr11:108,272,729-108,272,729 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.3161C>G NP_000042.3:p.Pro1054Arg
NM_001351834.1:c.3161C>G NP_001338763.1:p.Pro1054Arg
Ensemble ENST00000278616.10:c.3161C>G ENST00000278616.10:p.Pro1054Arg
Summary

MGeND

Clinical significance Benign
Variant entry 1
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 Benign Likely 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
COSMIC COSM21827 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2020-05-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign no assertion criteria provided Carcinoma of colon unknown Detail
Benign 2023-11-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2022-04-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Benign 2023-07-07 criteria provided, single submitter Familial cancer of breast germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 colorectal carcinoma Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.107 colorectal cancer Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.026 colorectal carcinoma Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.004 colorectal cancer Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.011 Malignant neoplasm of prostate A missense variant in ATM, rs1800057, associated with increased prostate cancer ... BeFree 19638463 Detail
0.047 breast carcinoma No evidence for association of ataxia-telangiectasia mutated gene T2119C and C31... BeFree 12473176 Detail
0.007 prostate carcinoma A missense variant in ATM, rs1800057, associated with increased prostate cancer ... BeFree 19638463 Detail
0.007 prostate carcinoma ATM missense variant P1054R predisposes to prostate cancer. BeFree 17502119 Detail
0.011 Malignant neoplasm of prostate ATM missense variant P1054R predisposes to prostate cancer. BeFree 17502119 Detail
0.128 Malignant neoplasm of breast No evidence for association of ataxia-telangiectasia mutated gene T2119C and C31... BeFree 12473176 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) AND not specified ClinVar Detail
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) AND Carcinoma of colon ClinVar Detail
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) AND not provided ClinVar Detail
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) AND Familial cancer of breast ClinVar Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
A missense variant in ATM, rs1800057, associated with increased prostate cancer risk, was found excl... DisGeNET Detail
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid subst... DisGeNET Detail
A missense variant in ATM, rs1800057, associated with increased prostate cancer risk, was found excl... DisGeNET Detail
ATM missense variant P1054R predisposes to prostate cancer. DisGeNET Detail
ATM missense variant P1054R predisposes to prostate cancer. DisGeNET Detail
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid subst... 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
rs1800057 dbSNP
Genome
hg19
Position
chr11:108,143,456-108,143,456
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8594
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120956
Allele Counts in All Race (ExAC)
2046
Heterozygous Counts in All Race (ExAC)
1986
Homozygous Counts in All Race (ExAC)
30
Allele Frequency in All Race (ExAC)
0.01691524190614769
Genome browser