ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2831_2833GTA[1] (p.Ser945del) (rs80358332)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236503 SCV000293987 uncertain significance not provided 2016-02-26 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA1 is denoted c.2834_2836delGTA at the cDNA level and p.Ser945del (S945del) at the protein level. The normal sequence, with the bases that are deleted in braces, is TGTA[GTA]TCAA. This deletion of a single Serine residue occurs at a position that is not conserved and is located in the within the DNA binding domain and the RAD51 binding domain (Chen 1998, Narod 2004). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. 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 Ser945del to be a variant of uncertain significance.
Ambry Genetics RCV000572251 SCV000661024 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV001204921 SCV001376152 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-10-08 criteria provided, single submitter clinical testing This variant, c.2834_2836del, results in the deletion of 1 amino acid(s) of the BRCA1 protein (p.Ser945del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 54693). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111947 SCV000144557 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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