chr11:108244873:C>T Detail (hg38) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,115,600-108,115,600 View the variant detail on this assembly version.
hg38 chr11:108,244,873-108,244,873

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.748C>T NP_000042.3:p.Arg250Ter
NM_001351834.1:c.748C>T NP_001338763.1:p.Arg250Ter
Ensemble ENST00000278616.10:c.748C>T ENST00000278616.10:p.Arg250Ter
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 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 tgv375525145 TogoVar
COSMIC COSM173211 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-03 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Pathogenic 2022-12-13 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-10-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-03-15 criteria provided, single submitter germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.709 ataxia telangiectasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) AND not provided ClinVar Detail
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) AND Malignant tumor of breast ClinVar Detail
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) AND Gastric cancer ClinVar Detail
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) AND Familial cancer of breast 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
rs772821016 dbSNP
Genome
hg38
Position
chr11:108,244,873-108,244,873
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8648
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)
121314
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.243071698237632E-6
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