ClinVar Miner

Submissions for variant NM_007297.4(BRCA1):c.-8+8290_-8+8291del (rs397508857)

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Total submissions: 4
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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) RCV000241271 SCV000299410 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 RCV000235120 SCV000209997 pathogenic not provided 2017-05-16 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA1 is denoted c.133_134delAA at the cDNA level and p.Lys45IlefsX20 (K45IfsX20) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TTGC[delAA]GTAA. The deletion causes a frameshift, which changes a Lysine to an Isoleucine at codon 45, and creates a premature stop codon at position 20 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 133_134delAA, previously denoted as 252delAA using alternate nomenclature, has been reported in individuals with Hereditary Breast and Ovarian Cancer (Couch 1997, Fackenthal 2012). We therefore consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241271 SCV000325018 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235120 SCV000600247 pathogenic not provided 2017-03-04 criteria provided, single submitter clinical testing

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