ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.994del (p.Ile332fs) (rs80359777)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574932 SCV000661202 pathogenic Hereditary cancer-predisposing syndrome 2016-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000112872 SCV000145802 pathogenic Breast-ovarian cancer, familial 2 1998-04-02 no assertion criteria provided clinical testing
Color RCV000574932 SCV000684103 pathogenic Hereditary cancer-predisposing syndrome 2016-09-25 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112872 SCV000328178 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496857 SCV000591724 pathogenic Hereditary breast and ovarian cancer syndrome 2015-06-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112872 SCV000300378 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000254766 SCV000321449 pathogenic not provided 2018-11-14 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.994delA at the cDNA level and p.Ile332PhefsX17 (I332FfsX17) at the protein level. This deletion is also known as BRCA2 1222delA using alternate nomenclature. The normal sequence, with the base that is deleted in brackets, is GAAAAAA[delA]TTTTC. The deletion causes a frameshift, which changes an Isoleucine to a Phenylalanine at codon 332, and creates a premature stop codon at position 17 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.994delA, also known as 1222delA using alternate nomenclature, has been observed in association with hereditary breast and ovarian cancer syndrome (Turner 1999, Fackenthal 2012, Kim 2012, Kang 2015, Rebbeck 2018). We consider this variant to be pathogenic.
GeneKor MSA RCV000045923 SCV000296841 pathogenic Familial cancer of breast 2016-07-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112872 SCV000296739 pathogenic Breast-ovarian cancer, familial 2 2015-02-02 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496857 SCV000587577 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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