ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2694dup (p.Val899fs) (rs80357549)

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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) RCV000111919 SCV000299814 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 RCV000111919 SCV000325436 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000484692 SCV000564730 pathogenic not provided 2016-09-20 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.2694dupA at the cDNA level and p.Val899SerfsX4 (V899SfsX4) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is CAAA[A]GTCA. The duplication causes a frameshift, which changes a Valine to a Serine at codon 899, and creates a premature stop codon at position 4 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.2694dupA, previously reported as 2809insA and 2690_2691insA using alternate nomenclature, has been observed in multiple individuals with a personal and/or family history of breast and/or ovarian cancer (van der Hout 2006, Zhang 2012, de Juan Jiménez 2013). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111919 SCV000144515 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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