ClinVar Miner

Submissions for variant NM_001024688.2(NBN):c.60del (p.Phe20fs) (rs587781305)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129019 SCV000172919 pathogenic Hereditary cancer-predisposing syndrome 2013-02-04 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000478932 SCV000566606 pathogenic not provided 2015-05-15 criteria provided, single submitter clinical testing This deletion of one nucleotide in NBN is denoted c.306delT at the cDNA level and p.Phe102LeufsX7 (F102LfsX7) at the protein level. The normal sequence, with the base that is deleted in braces, is TGTT[T]GGAA. The deletion causes a frameshift, which changes a Phenylalanine to a Leucine at codon 102, and creates a premature stop codon at position 7 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. NBN c.306delT has been observed in an individual referred for clinical testing due to personal and/or family history of cancer (LaDuca 2014). we consider this variant to be pathogenic.
Counsyl RCV000668848 SCV000793520 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2017-08-18 criteria provided, single submitter clinical testing
Color RCV000129019 SCV000905479 pathogenic Hereditary cancer-predisposing syndrome 2019-12-11 criteria provided, single submitter clinical testing
Invitae RCV000668848 SCV001202307 pathogenic Microcephaly, normal intelligence and immunodeficiency 2019-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe102Leufs*7) in the NBN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual undergoing hereditary cancer gene testing (PMID: 24763289). ClinVar contains an entry for this variant (Variation ID: 140828). Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic.

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