ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4076+4T>G (rs183176301)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000193294 SCV000167196 benign not specified 2013-10-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193294 SCV000227748 benign not specified 2016-06-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000193294 SCV000246800 likely benign not specified 2018-10-26 criteria provided, single submitter clinical testing
Invitae RCV000232892 SCV000283146 benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000193294 SCV000301747 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000569071 SCV000672873 likely benign Hereditary cancer-predisposing syndrome 2018-09-16 criteria provided, single submitter clinical testing Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Integrated Genetics/Laboratory Corporation of America RCV000588309 SCV000694479 benign not provided 2016-06-12 criteria provided, single submitter clinical testing Variant summary: The c.4076+4T>G in a BLM gene is an intronic variant that alters a non-conserved nucleotide. 5/5 in silico tools via Alamut predict this variant to not affect normal splicing, however these predictions have yet to be confirmed by functional assay. The variant is present in control dataset of ExAC at a frequency of 0.0038 (458/119942 chrs tested, including 3 homozygous occurrences) which exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.0035), suggesting that this variant is a likely polymorphism. The variant has been reported in affected with breast cancer in literature (Thompson_2012) without strong evidence of causality. Multiple clinical laboratories have classified the variant as "Benign. Taken together, the variant is classified as Benign.
GeneKor MSA RCV000569071 SCV000821795 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000232892 SCV000838990 likely benign Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000588309 SCV001149595 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000232892 SCV001279112 likely benign Bloom syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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