ClinVar Miner

Submissions for variant GRCh38/hg38 15q11.2(chr15:22600363-23120182)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004555204 SCV005044166 pathogenic Chromosome 15q11.2 deletion syndrome 2022-02-01 criteria provided, single submitter clinical testing The de novo interstitial 15q11.2 BP1-BP2 deletion identified in this fetus contains 4 OMIM associated genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5). This proximal 15q11.2 region harbors a cluster of low copy repeats that lead to recurrent copy number changes in this region. Deletions in this region are associated with 15q11.2 BP1-BP2 recurrent deletion syndrome. The 15q11.2 BP1-BP2 microdeletion is associated with both phenotypic variability as well as reduced penetrance, and while it is enriched in patient populations (PMID:25689425, 28387067), it is also often inherited from asymptomatic parents (PMID:21841781, 23258348, 25689425).

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