ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5629_5631AAC[1] (p.Asn1878del) (rs794727015)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220991 SCV000276525 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173958 SCV000225152 uncertain significance not provided 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV000637681 SCV000759151 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-11-16 criteria provided, single submitter clinical testing This variant, c.5632_5634delAAC, results in the deletion of 1 amino acid of the BRCA2 protein (p.Asn1878del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771028475, ExAC 0.002%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 193790). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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