chr11:108254034:T>C Detail (hg38) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,124,761-108,124,761 View the variant detail on this assembly version.
hg38 chr11:108,254,034-108,254,034

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.2119T>C NP_000042.3:p.Ser707Pro
NM_001351834.1:c.2119T>C NP_001338763.1:p.Ser707Pro
Ensemble ENST00000278616.10:c.2119T>C ENST00000278616.10:p.Ser707Pro
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 tgv375525468 TogoVar
COSMIC COSM41595 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Benign Likely benign 2018-05-23 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
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
0.047 breast carcinoma No evidence for association of ataxia-telangiectasia mutated gene T2119C and C31... BeFree 12473176 Detail
0.128 Malignant neoplasm of breast No evidence for association of ataxia-telangiectasia mutated gene T2119C and C31... BeFree 12473176 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND not specified ClinVar Detail
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND not provided ClinVar Detail
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND Familial cancer of breast ClinVar Detail
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid subst... DisGeNET Detail
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid subst... 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
rs4986761 dbSNP
Genome
hg38
Position
chr11:108,254,034-108,254,034
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8534
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3435669088352472E-4
Chromosome Counts in All Race (ExAC)
119470
Allele Counts in All Race (ExAC)
947
Heterozygous Counts in All Race (ExAC)
933
Homozygous Counts in All Race (ExAC)
7
Allele Frequency in All Race (ExAC)
0.007926676153009123
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