ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.1126G>A (p.Gly376Arg)

dbSNP: rs1057519757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000425556 SCV000505006 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001290349 SCV001478395 pathogenic Vascular Malformations and Overgrowth 2020-11-08 no assertion criteria provided research This alteration is both well-represented in cancer as identified in the COSMIC database with >=20 documented instances and also considered to occur in a statistically significant hotspot or region according to cancerhotspots.org database [PS_CANCER], is supported by well-established models demonstrating downstream impact of the variant on RNA structure, gene expression, or protein function [PS3], is of apparent somatic mosaic etiology with moderate supporting evidence including no discernible strand bias, in a region absent of repetition and sequence homology, with clean, high-quality reads, having a variant allele fraction < 3% [PS2_Mod], and is a missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease [PP2].

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