ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+1407delinsAA (rs886040010)

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Total submissions: 3
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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) RCV000256497 SCV000323417 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 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 RCV000256497 SCV000325280 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000479719 SCV000564723 pathogenic not provided 2014-10-15 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRCA1 c.2194delGinsAA at the cDNA level and p.Glu732LysfsX8 (E732KfsX8) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is GAAAAA[delG][insAA]AAGA. The variant causes a frameshift, which changes a Glutamic Acid to a Lysine at codon 732, and creates a premature stop codon at position 8 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.

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