ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1757del (p.Pro586fs) (rs80357723)

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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) RCV000111675 SCV000299644 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000132331 SCV000187419 pathogenic Hereditary cancer-predisposing syndrome 2015-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111675 SCV000325133 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657213 SCV000778939 pathogenic not provided 2017-05-15 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.1757delC at the cDNA level and p.Pro586LeufsX2 (P586LfsX2) at the protein level. The normal sequence, with the base that is deleted in brackets, is GAAC[delC]TATA. The deletion causes a frameshift which changes a Proline to a Leucine at codon 586, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.1757delC, also published as 1876delC using alternate nomenclature, has been observed in at least one individual with Hereditary Breast and Ovarian Cancer (Hopper 1999, Southey 1999, Turkovic 2010). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111675 SCV000144173 pathogenic Breast-ovarian cancer, familial 1 1998-11-30 no assertion criteria provided clinical testing

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