ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.549_550dup (p.Asn184fs)

dbSNP: rs1554900599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575684 SCV000671735 pathogenic Hereditary cancer-predisposing syndrome 2017-01-27 criteria provided, single submitter clinical testing The c.549_550dupGA pathogenic mutation, located in coding exon 6 of the PTEN gene, results from a duplication of GA at nucleotide position 549, causing a translational frameshift with a predicted alternate stop codon (p.N184Rfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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