chr11:108143182:C>T Detail (hg19) (ATM)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,143,182-108,143,182 |
hg38 | chr11:108,272,455-108,272,455 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001351834.1:c.3078-77C>T | |
NM_000051.3:c.3078-77C>T | ||
Ensemble | ENST00000675843.1:c.3078-77C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.406 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-07-01 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
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Detail |
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2023-11-12 | criteria provided, single submitter | not specified |
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Detail |
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2015-03-03 | criteria provided, single submitter | not provided |
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Detail |
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2022-04-19 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.002 | Papillary thyroid carcinoma | In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations... | BeFree | 19286843 | Detail |
0.005 | Carcinoma of lung | ATM rs664677 polymorphism was associated with decreased lung cancer risk as well... | BeFree | 22203481 | Detail |
0.021 | Malignant neoplasm of lung | ATM rs664677 polymorphism was associated with decreased lung cancer risk as well... | BeFree | 22203481 | Detail |
0.047 | breast carcinoma | ATM rs664677 polymorphism was associated with decreased lung cancer risk as well... | BeFree | 22203481 | Detail |
0.128 | Malignant neoplasm of breast | ATM rs664677 polymorphism was associated with decreased lung cancer risk as well... | BeFree | 22203481 | Detail |
0.006 | Papillary thyroid carcinoma | In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations... | BeFree | 19286843 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.3078-77C>T AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.3078-77C>T AND not specified | ClinVar | Detail |
NM_000051.4(ATM):c.3078-77C>T AND not provided | ClinVar | Detail |
NM_000051.4(ATM):c.3078-77C>T AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations, the GG/TC/CG/GC ge... | DisGeNET | Detail |
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast... | DisGeNET | Detail |
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast... | DisGeNET | Detail |
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast... | DisGeNET | Detail |
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast... | DisGeNET | Detail |
In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations, the GG/TC/CG/GC ge... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs664677 dbSNP
- Genome
- hg19
- Position
- chr11:108,143,182-108,143,182
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs664677
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4056
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6797
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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