ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.919+5G>C (rs766127339)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198875 SCV000254645 uncertain significance Li-Fraumeni syndrome 2015-03-13 criteria provided, single submitter clinical testing This variant affects a highly conserved nucleotide within the consensus donor splice site of intron 8. The majority of introns (75-85%) have a G at this position (PMID: 9536098). This variant has not been reported in the literature and is not present in population databases. Nucleotide substitutions at +5 position of the intron are relatively common causes of aberrant splicing (PMID: 17576681) but according to multiple splice site algorithms (NNSPLICE, SpliceSiteFinder-like, MaxEntScan, GeneSplicer, Human Splicing Finder) this particular c.919+5G>C variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000220008 SCV000278609 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-25 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;RNA Studies

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