chr11:108141212:AAGT> Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,141,212-108,141,215
hg38 chr11:108,270,485-108,270,488 

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.2839-579_2839-576delAAGT
NM_001351834.1:c.2839-579_2839-576delAAGT
Ensemble ENST00000675843.1:c.2839-579_2839-576delAAGT
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-05-21 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Pathogenic Likely pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-08-25 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2023-08-05 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
Annotation

Annotations

DescrptionSourceLinks
NM_000051.3(ATM):c.2839-579_2839-576del AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.3(ATM):c.2839-579_2839-576del AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.3(ATM):c.2839-579_2839-576del AND not provided ClinVar Detail
NM_000051.3(ATM):c.2839-579_2839-576del AND Familial cancer of breast ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776552 dbSNP
Genome
hg19
Position
chr11:108,141,212-108,141,215
Variant Type
snv
Reference Allele
AAGT
Alternative Allele
-
Genome browser