ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3835A>G (p.Asn1279Asp) (rs80358626)

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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 RCV000130851 SCV000185749 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077314 SCV000146304 uncertain significance Breast-ovarian cancer, familial 2 1998-07-10 no assertion criteria provided clinical testing
Color RCV000130851 SCV000903290 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Counsyl RCV000077314 SCV000785436 uncertain significance Breast-ovarian cancer, familial 2 2017-08-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000221261 SCV000591877 uncertain significance not specified 2015-07-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763886 SCV000894821 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000657036 SCV000279382 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3835A>G at the cDNA level, p.Asn1279Asp (N1279D) at the protein level, and results in the change of an Asparagine to an Aspartic Acid (AAT>GAT). Using alternate nomenclature, this variant would be defined as BRCA2 4063A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Asn1279Asp was not observed at a significant allele frequency in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Asparagine and Aspartic Acid differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Asn1279Asp occurs at a position that is not conserved and is located within the RAD51 binding domain (Roy 2012). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Asn1279Asp is pathogenic or benign. We consider it to be a variant of uncertain significance.
Mendelics RCV000709309 SCV000838789 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000221261 SCV000600565 uncertain significance not specified 2016-11-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077314 SCV000109111 uncertain significance Breast-ovarian cancer, familial 2 2009-10-21 no assertion criteria provided clinical testing

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