ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.209+5G>A (rs1114167650)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491938 SCV000580012 pathogenic Hereditary cancer-predisposing syndrome 2017-03-13 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Good segregation with disease (lod 1.5-3 = 5-9 meioses);Other strong data supporting pathogenic classification;Deficient protein function in appropriate functional assay(s)
Invitae RCV001050316 SCV001214415 pathogenic PTEN hamartoma tumor syndrome 2019-05-20 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the PTEN gene. It does not directly change the encoded amino acid sequence of the PTEN protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with PTEN-related conditions (PMID: 10232405, 23695273, 20712882, Invitae). This variant is also known as IVS3+5G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 427614). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16014636, 28677221). For these reasons, this variant has been classified as Pathogenic.
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000516142 SCV000579225 pathogenic Cowden syndrome 1 2017-05-26 no assertion criteria provided research

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