Geno
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Mag
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Summary
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(A;A)
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5
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Li-Fraumeni Syndrome
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(A;G)
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7
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Li-Fraumeni Syndrome (predicted)
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(G;G)
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0
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common in clinvar
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(G;T)
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7
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Li-Fraumeni Syndrome (predicted)
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rs28934576, also known as Arg273His or R273H, is a SNP in the p53 TP53 tumor suppressor gene. The minor allele is denoted as pathogenic (causal) in ClinVar.
The rare rs28934576(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1565144]
[PMID 10645809] Germline p53 Mutation in a Case of Li-Fraumeni Syndrome Presenting Gastric Cancer.
A germline missense mutation CGT (Arg, wild type) to CAT (His) substitution at codon 273 of the p53 gene, causing Li-Fraumeni Syndrome with a gastric cancer in a Japanese. PCR direct sequencing analysis revealed a germline missense mutation in exon 8, causing a substitution of CAT (His) for CGT (Arg).
See also OMIM 191170.20
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]
ClinVar
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Risk
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Rs28934576(A;A) rs28934576(C;C) rs28934576(T;T) |
Alt
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Rs28934576(A;A) rs28934576(C;C) rs28934576(T;T) |
Reference
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Rs28934576(G;G) |
Significance |
Pathogenic |
Disease |
Pancreatic adenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Chronic lymphocytic leukemia Colorectal Neoplasms Adenocarcinoma of lung Medulloblastoma Adrenocortical carcinoma Malignant melanoma of skin Brainstem glioma Malignant neoplasm of body of uterus Adenocarcinoma of prostate Acute myeloid leukemia Oesophageal carcinoma Hepatocellular carcinoma Small cell lung cancer Multiple myeloma Adenocarcinoma of stomach Neoplasm of breast Uterine Carcinosarcoma Squamous cell carcinoma of lung Ovarian Serous Cystadenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Thyroid cancer not provided Neoplasm Li-Fraumeni syndrome |
Variation | info |
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Gene |
TP53 |
CLNDBN |
Pancreatic adenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Chronic lymphocytic leukemia Colorectal Neoplasms Adenocarcinoma of lung Medulloblastoma Adrenocortical carcinoma Malignant melanoma of skin Brainstem glioma Malignant neoplasm of body of uterus Adenocarcinoma of prostate Acute myeloid leukemia Oesophageal carcinoma Hepatocellular carcinoma Small cell lung cancer Multiple myeloma Adenocarcinoma of stomach Neoplasm of breast Uterine Carcinosarcoma Squamous cell carcinoma of lung Ovarian Serous Cystadenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Thyroid cancer, anaplastic not provided Neoplasm Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577120C>A; NC_000017.10:g.7577120C>G; NC_000017.10:g.7577120C>T |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000418536.1, RCV000418738.1, RCV000421259.1, RCV000423490.1, RCV000423633.1, RCV000423981.1, RCV000425890.1, RCV000426132.1, RCV000427314.1, RCV000428692.1, RCV000429444.1, RCV000431067.1, RCV000433315.1, RCV000434296.1, RCV000434695.1, RCV000435767.1, RCV000436818.1, RCV000437048.1, RCV000438507.1, RCV000441792.1, RCV000442241.1, RCV000444109.1, RCV000444782.1, RCV000444989.1, RCV000222860.1, RCV000418732.1, RCV000419080.1, RCV000419328.1, RCV000419898.1, RCV000420123.1, RCV000421059.1, RCV000422030.1, RCV000426561.1, RCV000426712.1, RCV000427328.1, RCV000427811.1, RCV000429434.1, RCV000429654.1, RCV000431744.1, RCV000431835.1, RCV000434099.1, RCV000436356.1, RCV000437116.1, RCV000437377.1, RCV000439039.1, RCV000439246.1, RCV000440313.1, RCV000442511.1, RCV000444938.1, RCV000013163.21, RCV000013164.5, RCV000115738.6, RCV000254693.2, RCV000418930.1, RCV000419960.1, RCV000422097.1, RCV000422733.1, RCV000423826.1, RCV000424109.1, RCV000424218.1, RCV000424627.1, RCV000424833.1, RCV000428779.1, RCV000429822.1, RCV000430161.1, RCV000431361.1, RCV000433409.1, RCV000434044.1, RCV000435547.1, RCV000436207.1, RCV000437210.1, RCV000439513.1, RCV000440474.1, RCV000440815.1, RCV000441169.1, RCV000443907.1, RCV000444851.1, RCV000444900.1, RCV000463420.1, |