ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3253dupA (p.Arg1085Lysfs) (rs80357517)

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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) RCV000077125 SCV000299899 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 RCV000077125 SCV000325585 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000483228 SCV000566135 pathogenic not provided 2016-04-19 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.3253dupA at the cDNA level and p.Arg1085LysfsX8 (R1085KfsX8) at the protein level. The normal sequence, with the base that is duplicated in braces, is GCTT[A]GATT. The duplication causes a frameshift, which changes an Arginine to a Lysine at codon 1085, and creates a premature stop codon at position 8 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.3253dupA, previously reported as BRCA1 3372insA, has been observed in at least one individual with hereditary breast and ovarian cancer (Casadei 2001). We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077125 SCV000108922 pathogenic Breast-ovarian cancer, familial 1 2011-08-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077125 SCV000144685 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496900 SCV000587288 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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