ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2716_2730del (p.Lys906_Gln910del) (rs755789142)

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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 RCV000564066 SCV000661134 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000564066 SCV000904128 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-13 criteria provided, single submitter clinical testing
Invitae RCV000822050 SCV000962834 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-19 criteria provided, single submitter clinical testing This variant, c.2716_2730delAAGGAAGAAAATCAA, results in the deletion of 5 amino acid(s) of the BRCA1 protein (p.Lys906_Gln910del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 479264). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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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