ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4187_4189del (p.Gln1396del) (rs730881463)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159925 SCV000210050 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in BRCA1 is denoted c.4187_4189delAGA at the cDNA level and p.Gln1396del at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAGC[delAGA]GGGA. This in frame deletion of a single Glutamine residue occurs at a position that is highly conserved throughout evolution and is not located in a known functional domain. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. However, a nearby variant causing the same protein change, c.4183_4185delCAG (4304delCAG using alternate nomenclature), was observed in two individuals with breast cancer and a family history of breast and/or ovarian cancer (Balz 2002). In addition, another nearby variant resulting in the same protein change, c.4186_4188del, was identified in blood and breast tissues from healthy controls (Colombo 2014). Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA1 Gln1396del to be a variant of uncertain significance.

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