chr11:108186796:G>A Detail (hg19) (ATM, C11orf65)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,186,796-108,186,796 |
hg38 | chr11:108,316,069-108,316,069 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001351834.1:c.6154G>A | NP_001338763.1:p.Glu2052Lys |
NM_000051.3:c.6154G>A | NP_000042.3:p.Glu2052Lys | |
Ensemble | ENST00000452508.7:c.6154G>A | ENST00000452508.7:p.Glu2052Lys |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001330368.1:c.641-6998C>T | |
Ensemble | ENST00000525729.5:c.641-6998C>T |
Summary
MGeND
Clinical significance |
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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 | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-06-30 | criteria provided, conflicting interpretations | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-28 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
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Detail |
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2022-09-16 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2023-10-28 | criteria provided, conflicting interpretations | Familial cancer of breast |
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Detail |
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no assertion criteria provided |
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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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND not provided | ClinVar | Detail |
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND Familial cancer of breast | ClinVar | Detail |
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND Malignant tumor of breast | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | 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
- rs202206540 dbSNP
- Genome
- hg19
- Position
- chr11:108,186,796-108,186,796
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8614
- 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)
- 121210
- Allele Counts in All Race (ExAC)
- 8
- Heterozygous Counts in All Race (ExAC)
- 8
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 6.600115502021286E-5
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