ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.151_152del (p.Asp51fs)

dbSNP: rs1592280833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Academic Department of Medical Genetics, University of Cambridge RCV000850057 SCV000992209 likely pathogenic Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.
Invitae RCV001052382 SCV001216591 pathogenic Multiple endocrine neoplasia type 4 2019-12-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKN1B are known to be pathogenic (PMID: 17030811, 24819502). This variant has been observed in individual(s) with paraganglioma and breast cancer (PMID: 29909963). This variant is also known as c.148_149delAG (p.Arg50fs) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp51Hisfs*73) in the CDKN1B gene. It is expected to result in an absent or disrupted protein product.

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