chr11:108098533:C>A Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,098,533-108,098,533
hg38 chr11:108,227,806-108,227,806 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.103C>A NP_000042.3:p.Arg35=
NM_001351834.1:c.103C>A NP_001338763.1:p.Arg35=
Ensemble ENST00000675843.1:c.103C>A ENST00000675843.1:p.Arg35=
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 Likely 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2020-11-30 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2023-08-24 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign Likely benign 2019-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2024-02-01 criteria provided, single submitter Ataxia-telangiectasia syndrome germline Detail
Likely benign 2022-04-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Likely benign 2022-04-06 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Likely benign 2023-07-07 criteria provided, single submitter Familial cancer of breast germline 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.103C>A (p.Arg35=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.103C>A (p.Arg35=) AND not specified ClinVar Detail
NM_000051.4(ATM):c.103C>A (p.Arg35=) AND not provided ClinVar Detail
NM_000051.4(ATM):c.103C>A (p.Arg35=) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.103C>A (p.Arg35=) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000051.4(ATM):c.103C>A (p.Arg35=) AND Breast and/or ovarian cancer ClinVar Detail
NM_000051.4(ATM):c.103C>A (p.Arg35=) AND Familial cancer of breast ClinVar Detail
NA DisGeNET 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
rs55861249 dbSNP
Genome
hg19
Position
chr11:108,098,533-108,098,533
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
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)
121132
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.429911171284218E-5
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