ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)

dbSNP: rs766044684
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564317 SCV000670276 pathogenic Hereditary cancer-predisposing syndrome 2022-10-13 criteria provided, single submitter clinical testing The c.1648_1651delAAAA pathogenic mutation, located in coding exon 11 of the NBN gene, results from a deletion of 4 nucleotides at nucleotide positions 1648 to 1651, causing a translational frameshift with a predicted alternate stop codon (p.K550Gfs*8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV000636742 SCV000758183 pathogenic Microcephaly, normal intelligence and immunodeficiency 2024-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys550Glyfs*8) in the NBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 483999). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001764666 SCV002008480 likely pathogenic not provided 2021-10-26 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614)
Revvity Omics, Revvity RCV001764666 SCV002018215 pathogenic not provided 2019-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000636742 SCV002045326 pathogenic Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491128 SCV002799891 likely pathogenic Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2021-07-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465241 SCV004199641 pathogenic Aplastic anemia 2023-06-02 criteria provided, single submitter clinical testing

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