chr11:108164137:T>C Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,164,137-108,164,137
hg38 chr11:108,293,410-108,293,410 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.4709T>C NP_000042.3:p.Val1570Ala
NM_001351834.1:c.4709T>C NP_001338763.1:p.Val1570Ala
Ensemble ENST00000531525.3:c.4437-1517T>C
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 Conflicting classifications of pathogenicity
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
Benign Likely benign 2024-05-07 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations Ataxia-telangiectasia syndrome germline unknown Detail
Conflicting interpretations of pathogenicity 2023-08-15 criteria provided, conflicting interpretations not specified germline unknown Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2020-01-27 criteria provided, single submitter Familial cancer of breast unknown Detail
Uncertain significance no assertion criteria provided unknown Detail
Uncertain significance 2023-05-05 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Uncertain significance 2024-02-28 criteria provided, single submitter ATM-related disorder 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.4709T>C (p.Val1570Ala) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) AND not specified ClinVar Detail
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) AND not provided ClinVar Detail
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) AND Familial cancer of breast ClinVar Detail
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) AND Malignant tumor of breast ClinVar Detail
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) AND Breast and/or ovarian cancer ClinVar Detail
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) AND ATM-related disorder 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
rs140856217 dbSNP
Genome
hg19
Position
chr11:108,164,137-108,164,137
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8642
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)
121250
Allele Counts in All Race (ExAC)
59
Heterozygous Counts in All Race (ExAC)
59
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.8659793814432987E-4
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