ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.261del (p.Gln87fs)

dbSNP: rs1114167637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491589 SCV000579994 pathogenic Hereditary cancer-predisposing syndrome 2015-07-27 criteria provided, single submitter clinical testing The c.261delA pathogenic mutation, located in coding exon 5 of the PTEN gene, results from a deletion of one nucleotide at position 261, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244960 SCV002512218 pathogenic Macrocephaly-autism syndrome 2021-11-01 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderate, PP1 supporting

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