chr11:108141874:G>A Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,141,874-108,141,874
hg38 chr11:108,271,147-108,271,147 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001351834.1:c.2921+1G>A
NM_000051.3:c.2921+1G>A
Ensemble ENST00000452508.7:c.2921+1G>A
Summary

MGeND

Clinical significance Pathogenic other
Variant entry 5
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 Pathogenic Likely pathogenic
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 COSM146161 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 pyloric antrum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
other Neuroendocrine carcinoma (disorder) unknown MGS000025
(TMGS000084) 		Manabu Muto Kyoto University
Pathogenic 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2020/04/20 duodenum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-03-28 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-01-24 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Pathogenic 2023-05-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-08-29 criteria provided, single submitter not specified germline Detail
Pathogenic 2022-03-23 criteria provided, single submitter Familial cancer of breast,Ataxia-telangiectasia syndrome unknown Detail
Pathogenic 2022-03-23 criteria provided, single submitter Familial cancer of breast,Ataxia-telangiectasia syndrome unknown Detail
Pathogenic 2023-02-21 no assertion criteria provided endometrial carcinoma germline Detail
Pathogenic 2024-01-18 criteria provided, multiple submitters, no conflicts Familial cancer of breast unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.709 ataxia telangiectasia NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.2921+1G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.2921+1G>A AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.2921+1G>A AND not provided ClinVar Detail
NM_000051.4(ATM):c.2921+1G>A AND not specified ClinVar Detail
NM_000051.4(ATM):c.2921+1G>A AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.2921+1G>A AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.2921+1G>A AND Endometrial carcinoma ClinVar Detail
NM_000051.4(ATM):c.2921+1G>A AND Familial cancer of breast ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587781558 dbSNP
Genome
hg19
Position
chr11:108,141,874-108,141,874
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8606
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)
121072
Allele Counts in All Race (ExAC)
3
Allele Frequency in All Race (ExAC)
2.477864411259416E-5
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