chr11:108227849:C>G Detail (hg38) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,098,576-108,098,576 View the variant detail on this assembly version.
hg38 chr11:108,227,849-108,227,849

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.146C>G NP_000042.3:p.Ser49Cys
NM_001351834.1:c.146C>G NP_001338763.1:p.Ser49Cys
Ensemble ENST00000278616.10:c.146C>G ENST00000278616.10:p.Ser49Cys
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
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 tgv375524500 TogoVar
COSMIC COSM6495407 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2006-06-01 no assertion criteria provided Breast cancer, susceptibility to germline Detail
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline Detail
Benign Likely benign 2020-06-08 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign Likely benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2020-10-06 criteria provided, single submitter unknown Detail
Benign no assertion criteria provided unknown Detail
Benign 2022-03-09 reviewed by expert panel Familial cancer of breast germline Detail
Benign 2022-04-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome 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
0.128 Malignant neoplasm of breast A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more comm... BeFree 15042666 Detail
0.246 melanoma Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus no... BeFree 18565893 Detail
0.007 prostate carcinoma Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus no... BeFree 18565893 Detail
0.011 Malignant neoplasm of prostate Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus no... BeFree 18565893 Detail
0.047 breast carcinoma A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more comm... BeFree 15042666 Detail
0.047 breast carcinoma The ATM missense mutation p.Ser49Cys (c.146C&gt;G) and the risk of breast cancer... BeFree 16652348 Detail
0.709 ataxia telangiectasia Eight coding SNPs were chosen in ATM (Ser49Cys), BID (Ser56Cys), CASP8 (Asp302Hi... BeFree 21396839 Detail
0.128 Malignant neoplasm of breast The ATM missense mutation p.Ser49Cys (c.146C&gt;G) and the risk of breast cancer... BeFree 16652348 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND Breast cancer, susceptibility to ClinVar Detail
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND not specified ClinVar Detail
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND not provided ClinVar Detail
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND Tip-toe gait ClinVar Detail
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND Malignant tumor of breast ClinVar Detail
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND Familial cancer of breast ClinVar Detail
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with ... DisGeNET Detail
Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (... DisGeNET Detail
Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (... DisGeNET Detail
Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (... DisGeNET Detail
A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with ... DisGeNET Detail
The ATM missense mutation p.Ser49Cys (c.146C&gt;G) and the risk of breast cancer. DisGeNET Detail
Eight coding SNPs were chosen in ATM (Ser49Cys), BID (Ser56Cys), CASP8 (Asp302His), CASP10 (Val410Il... DisGeNET Detail
The ATM missense mutation p.Ser49Cys (c.146C&gt;G) and the risk of breast cancer. 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
rs1800054 dbSNP
Genome
hg38
Position
chr11:108,227,849-108,227,849
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8636
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)
121110
Allele Counts in All Race (ExAC)
893
Heterozygous Counts in All Race (ExAC)
883
Homozygous Counts in All Race (ExAC)
5
Allele Frequency in All Race (ExAC)
0.007373462141854512
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