chr11:108138003:T>C Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,138,003-108,138,003
hg38 chr11:108,267,276-108,267,276 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.2572T>C NP_000042.3:p.Phe858Leu
NM_001351834.1:c.2572T>C NP_001338763.1:p.Phe858Leu
Ensemble ENST00000278616.10:c.2572T>C ENST00000278616.10:p.Phe858Leu
Summary

MGeND

Clinical significance Benign
Variant entry 1
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 COSM21826 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified 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 Detail
Likely benign no assertion criteria provided Carcinoma of colon unknown Detail
Benign 2021-05-31 criteria provided, single submitter paternal unknown Detail
Benign 2019-05-24 criteria provided, single submitter Breast and/or ovarian cancer 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
0.002 colorectal carcinoma Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.107 colorectal cancer Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.026 colorectal carcinoma Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.004 colorectal cancer Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) AND not specified ClinVar Detail
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) AND not provided ClinVar Detail
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) AND Carcinoma of colon ClinVar Detail
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) AND Tip-toe gait ClinVar Detail
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) AND Breast and/or ovarian cancer ClinVar Detail
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... 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
rs1800056 dbSNP
Genome
hg19
Position
chr11:108,138,003-108,138,003
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8644
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)
121322
Allele Counts in All Race (ExAC)
1110
Heterozygous Counts in All Race (ExAC)
1084
Homozygous Counts in All Race (ExAC)
13
Allele Frequency in All Race (ExAC)
0.009149206244539325
Genome browser