ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2155_2163del (p.Lys719_Phe721del) (rs863224841)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197222 SCV000255305 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-05-02 criteria provided, single submitter clinical testing This variant, c.2155_2163delAAAGAATTT, results in the deletion of 3 amino acids of the BRCA1 protein (p.Lys719_Phe721del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 216873). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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.
Integrated Genetics/Laboratory Corporation of America RCV000590724 SCV000698923 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2155_2163delAAAGAATTT (p.Lys719_Phe721del) variant involves the deletion of 3 consecutive non-conserved amino acids that are not within a known functional domain. One in silico tool predicts a benign outcome for this variant. This variant was absent in 121246 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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