ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.635_636del (p.Arg212fs) (rs80359575)

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Total submissions: 10
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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) RCV000076962 SCV000300340 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 RCV000076962 SCV000327399 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000483149 SCV000568451 pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.635_636delGA at the cDNA level and p.Arg212LysfsX2 (R212KfsX2) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 863_864delGA or 862delAG. The normal sequence, with the bases that are deleted in brackets, is GTCA[delGA]AATG. The deletion causes a frameshift which changes an Arginine to a Lysine at codon 212, 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.635_636delGA has been identified in multiple hereditary breast and/or ovarian cancer families (Verhoog 1999, Meindl 2002, Castera 2014). We consider this variant to be pathogenic.
Ambry Genetics RCV000510046 SCV000607925 pathogenic Hereditary cancer-predisposing syndrome 2017-10-09 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)
Color RCV000510046 SCV000688977 pathogenic Hereditary cancer-predisposing syndrome 2017-07-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000076962 SCV000744389 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000483149 SCV000887873 pathogenic not provided 2017-12-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000076962 SCV000108759 pathogenic Breast-ovarian cancer, familial 2 2012-12-28 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000076962 SCV000147358 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000076962 SCV000733215 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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