ClinVar Miner

Submissions for variant NC_000010.11:g.(?_86876009)_(86876095_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817932 SCV000958519 pathogenic Generalized juvenile polyposis/juvenile polyposis coli 2018-10-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 3 of the BMPR1A gene, which includes the initiator codon. The 5' end of this event is likely confined to intron 2 of the BMPR1A gene. The 3' boundary is likely confined to intron 3 of the BMPR1A gene. This is expected to result in an absent or disrupted protein product. A deletion of exon 3 has been observed in an individual affected with colonic polyps (PMID: 26681312). Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic.

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