ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7234_7235insG (p.Thr2412fs) (rs397507906)

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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) RCV000241510 SCV000301143 pathogenic Breast-ovarian cancer, familial 2 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 RCV000241510 SCV000327616 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000481646 SCV000568482 pathogenic not provided 2017-01-02 criteria provided, single submitter clinical testing This insertion of one nucleotide in BRCA2 is denoted c.7234_7235insG at the cDNA level and p.Thr2412SerfsX2 (T2412SfsX2) at the protein level. Using alternate nomenclature, this variant has been defined as c.7462_7463insG, c.7234insG, c.7235insG, c.7462insG, or 7463insG. The normal sequence, with the base that is inserted in brackets, is TAAAA[insG]CTAA. The insertion causes a frameshift which changes a Threonine to a Serine at codon 2412, and creates a premature stop codon at position 2 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. BRCA2 c.7234_7235insG as been observed in association with breast and ovarian cancer (Esteban Cardenosa 2010, Tazzite 2012, de Juan Jimenez 2013, de Juan 2015, Jouali 2016). In addition, this variant was reported to co-occur with BRCA2 Ala3122Thr in two unrelated Moroccan patients with familial breast cancer (Tazzite 2012). We consider this variant to be pathogenic.
GeneKor MSA RCV000481646 SCV000693580 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing

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