ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3888_3890TTC[1] (p.Ser1298del) (rs80358339)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236417 SCV000292520 uncertain significance not provided 2015-12-09 criteria provided, single submitter clinical testing This deletion of three nucleotides in BRCA1 is denoted c.3891_3893delTTC at the cDNA level and p.Ser1298del at the protein level. The normal sequence, with the bases that are deleted in brackets, is TTTC[TTC]ACAG. This in frame deletion of a single Serine residue in exon 10 occurs at a position that is conserved across species and is located within the SCD domain and the region of interaction with ATM, CHEK2 and CDK2 (Narod 2004, Clark 2012). Functional studies by Bouwman et al. (2013) have suggested that BRCA1 Ser1298del, also known as Ser1297del, is neutral based on insensitivity to cisplatin and ability to support growth similar to controls in BRCA1-deficient mouse embryonic stem cells. Alternatively, multiple splicing models do not predict the natural splice donor site, thus a splicing effect cannot be ruled out. 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 Ser1298del to be a variant of uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112208 SCV000144909 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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