chr11:108119654:T>G Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,119,654-108,119,654
hg38 chr11:108,248,927-108,248,927 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.1066-6T>G
NM_001351834.1:c.1066-6T>G
Ensemble ENST00000675843.1:c.1066-6T>G
Summary

MGeND

Clinical significance
Variant entry
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
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 COSM758349 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations Ataxia-telangiectasia syndrome germline unknown Detail
Benign Likely benign 2020-12-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Benign 2022-03-09 reviewed by expert panel Familial cancer of breast germline Detail
Likely benign no assertion criteria provided unknown Detail
Likely benign 2023-06-23 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Likely benign 2021-11-05 criteria provided, single submitter Familial cancer of breast,Ataxia-telangiectasia syndrome unknown Detail
Likely benign 2021-11-05 criteria provided, single submitter Familial cancer of breast,Ataxia-telangiectasia syndrome 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.1066-6T>G AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.1066-6T>G AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.1066-6T>G AND not specified ClinVar Detail
NM_000051.4(ATM):c.1066-6T>G AND not provided ClinVar Detail
NM_000051.4(ATM):c.1066-6T>G AND Familial cancer of breast ClinVar Detail
NM_000051.4(ATM):c.1066-6T>G AND Malignant tumor of breast ClinVar Detail
NM_000051.4(ATM):c.1066-6T>G AND Breast and/or ovarian cancer ClinVar Detail
NM_000051.4(ATM):c.1066-6T>G AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.1066-6T>G AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs201686625 dbSNP
Genome
hg19
Position
chr11:108,119,654-108,119,654
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
7742
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)
112256
Allele Counts in All Race (ExAC)
146
Heterozygous Counts in All Race (ExAC)
144
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0013005986316989738
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