ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3569del (p.Pro1190fs)

dbSNP: rs1555587497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565414 SCV000673027 pathogenic Hereditary cancer-predisposing syndrome 2016-02-26 criteria provided, single submitter clinical testing The c.3569delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3569, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Baylor Genetics RCV003459379 SCV004216970 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2022-04-29 criteria provided, single submitter clinical testing

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