ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.347_351del (p.Asp116fs) (rs587776666)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460680 SCV000541601 pathogenic PTEN hamartoma tumor syndrome 2016-08-24 criteria provided, single submitter clinical testing This sequence change deletes 5 nucleotides from exon 5 of the PTEN mRNA (c.347_351delACAAT), causing a frameshift at codon 116. This creates a premature translational stop signal (p.Asp116Alafs*8) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic. This particular variant has been reported to segregate with Cowden disease in a family with a single case of male breast cancer (PMID: 9467011, 11238682). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008262 SCV000028469 pathogenic Cowden syndrome 1 2001-03-01 no assertion criteria provided literature only

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