chr11:108129749:C>T Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,129,749-108,129,749
hg38 chr11:108,259,022-108,259,022 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.2413C>T NP_000042.3:p.Arg805Ter
NM_001351834.1:c.2413C>T NP_001338763.1:p.Arg805Ter
Ensemble ENST00000278616.10:c.2413C>T ENST00000278616.10:p.Arg805Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
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
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 COSM1183959 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 descending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-14 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline maternal unknown Detail
Pathogenic 2023-05-04 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-05-11 criteria provided, single submitter not provided germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Ataxia-telangiectasia syndrome,Familial cancer of breast unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Ataxia-telangiectasia syndrome,Familial cancer of breast unknown Detail
Pathogenic 2019-05-01 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic no assertion criteria provided Malignant tumor of urinary bladder somatic Detail
Pathogenic 2024-01-25 reviewed by expert panel Familial cancer of breast germline unknown Detail
Pathogenic 2022-09-02 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.709 ataxia telangiectasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND not provided ClinVar Detail
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND Malignant tumor of urinary bladder ClinVar Detail
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND Familial cancer of breast ClinVar Detail
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) AND Breast and/or ovarian cancer ClinVar Detail
NA 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
rs780619951 dbSNP
Genome
hg19
Position
chr11:108,129,749-108,129,749
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8608
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.6468401486988845E-4
Chromosome Counts in All Race (ExAC)
120222
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.9907670809003344E-5
Genome browser