ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5078_5080del (p.Ala1693del) (rs80358345)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166817 SCV000217631 likely pathogenic Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation,Other strong data supporting pathogenic classification
GeneDx RCV000237025 SCV000293461 likely pathogenic not provided 2016-02-12 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA1 is denoted c.5078_5080delCTG at the cDNA level and p.Ala1693del (A1693del) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 c.5197_5199delCTG. The normal sequence, with the bases that are deleted in braces, is GATG[CTG]AGTT. This deletion of a single Alanine residue occurs at a position that is not conserved across species and is located in the BRCT 1 domain and a region known to interact with multiple proteins (Narod 2004, Paul 2014). This variant was observed in a breast/ovarian cancer family and was shown in splicing assays to result in skipping of exon 18 in both cDNA and RNA (Díez 2003, Houdayer 2012, Campos 2003). We consider this deletion to be likely pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083215 SCV000326150 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Genologica Medica RCV000083215 SCV000577933 likely pathogenic Breast-ovarian cancer, familial 1 2017-01-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083215 SCV000115289 uncertain significance Breast-ovarian cancer, familial 1 2007-03-30 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083215 SCV000145302 uncertain significance Breast-ovarian cancer, familial 1 2000-06-12 no assertion criteria provided clinical testing

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