| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;G)
|
7
|
Li-Fraumeni Syndrome (predicted)
|
| (C;T)
|
3.5
|
possible association with Li-Fraumeni-like syndrome
|
| (G;G)
|
0
|
|
rs28934574, also known as Arg282Trp or R282W, is a SNP in the p53 TP53 tumor suppressor gene.
The rare rs28934574(T) allele is associated with predisposition to cancer in the form of a condition denoted Li-Fraumeni syndrome-like in OMIM.[PMID 1565143]
However, there is conflicting evidence in ClinVar as to whether this really is a pathogenic (causal) variant; some submitters indicate is benign while others say it is indeed pathogenic.
See also OMIM 191170.0018
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
|
| Risk
|
Rs28934574(G;G) rs28934574(T;T) |
| Alt
|
Rs28934574(G;G) rs28934574(T;T) |
| Reference
|
Rs28934574(C;C) |
| Significance |
Other |
| Disease |
Li-Fraumeni-like syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not provided Malignant lymphoma Malignant melanoma of skin Glioblastoma Squamous cell carcinoma of lung Squamous cell carcinoma of the skin Ovarian Serous Cystadenocarcinoma Adenocarcinoma of prostate Colorectal Neoplasms Hepatocellular carcinoma Transitional cell carcinoma of the bladder Neoplasm of breast Pancreatic adenocarcinoma Adenocarcinoma of stomach Oesophageal carcinoma Adenocarcinoma of lung Squamous cell carcinoma of the head and neck Renal cell carcinoma Neoplasm of brain Malignant neoplasm of body of uterus |
| Variation | info |
|---|
| Gene |
TP53 |
| CLNDBN |
Li-Fraumeni-like syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not provided Malignant lymphoma, non-Hodgkin Malignant melanoma of skin Glioblastoma Squamous cell carcinoma of lung Squamous cell carcinoma of the skin Ovarian Serous Cystadenocarcinoma Adenocarcinoma of prostate Colorectal Neoplasms Hepatocellular carcinoma Transitional cell carcinoma of the bladder Neoplasm of breast Pancreatic adenocarcinoma Adenocarcinoma of stomach Oesophageal carcinoma Adenocarcinoma of lung Squamous cell carcinoma of the head and neck Renal cell carcinoma Neoplasm of brain Malignant neoplasm of body of uterus |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.7577094G>A; NC_000017.10:g.7577094G>C |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000013161.22, RCV000144670.1, RCV000148905.5, RCV000210145.1, RCV000236400.2, RCV000417906.1, RCV000420798.1, RCV000422920.1, RCV000423580.1, RCV000424430.1, RCV000425909.1, RCV000426680.1, RCV000430759.1, RCV000431084.1, RCV000432561.1, RCV000433225.1, RCV000434706.1, RCV000435581.1, RCV000436175.1, RCV000437607.1, RCV000441472.1, RCV000442231.1, RCV000444544.1, RCV000444687.1, RCV000129010.3, RCV000419333.1, RCV000419993.1, RCV000422134.1, RCV000422367.1, RCV000422747.1, RCV000425179.1, RCV000427647.1, RCV000430047.1, RCV000430393.1, RCV000431764.1, RCV000432433.1, RCV000435503.1, RCV000437219.1, RCV000437895.1, RCV000440446.1, RCV000440653.1, RCV000442540.1, RCV000442627.1, RCV000445294.1, |
]
