ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2760_2763ACAG[1] (p.Thr922fs) (rs80357822)

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Total submissions: 6
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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) RCV000111935 SCV000299832 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111935 SCV000325459 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575066 SCV000668380 pathogenic Hereditary cancer-predisposing syndrome 2017-11-06 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)
GeneDx RCV000657210 SCV000778936 pathogenic not provided 2018-02-06 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA1 is denoted c.2764_2767delACAG at the cDNA level and p.Thr922LeufsX77 (T922LfsX77) at the protein level. Using alternate nomenclature, this variant may be defined as 2883_2886delACAG, 2883del4, or 2881delGACA. The normal sequence, with the bases that are deleted in brackets, is ACAG[delACAG]TTAA. The deletion causes a frameshift which changes a Threonine to a Leucine at codon 922, and creates a premature stop codon at position 77 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.2764_2767delACAG has been observed in individuals with a personal and family history of breast and/or ovarian cancer (van der Hout 2006, Matsuo 2015, Brice?o-Balc?zar 2017). We consider this variant to be pathogenic.
Color RCV000575066 SCV000909332 pathogenic Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111935 SCV000144539 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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