ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1714G>T (p.Glu572Ter) (rs730881473)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241469 SCV000299637 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000159957 SCV000210109 pathogenic not provided 2015-10-14 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.1714G>T at the cDNA level and p.Glu572Ter (E572X) at the protein level. The substitution creates a nonsense variant, changing a Glutamic Acid to a premature stop codon (GAA>TAA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also reported as BRCA1 1833G>T using alternate nomenclature, has been reported in two French families with breast cancer (Lecarpentier 2012). Based on current information, we consider this variant to be pathogenic.
Ambry Genetics RCV000218698 SCV000276648 pathogenic Hereditary cancer-predisposing syndrome 2015-06-17 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241469 SCV000325125 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585678 SCV000693511 pathogenic Familial cancer of breast 2018-08-01 criteria provided, single submitter clinical testing

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