ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7436-4A>G (rs81002904)

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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 RCV000164776 SCV000215452 benign Hereditary cancer-predisposing syndrome 2015-04-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031679 SCV000147086 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768634 SCV000219393 uncertain significance Breast and/or ovarian cancer 2017-07-12 criteria provided, single submitter clinical testing
Color RCV000164776 SCV000910822 likely benign Hereditary cancer-predisposing syndrome 2015-12-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168599 SCV000592110 uncertain significance not specified 2012-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000168599 SCV000210421 uncertain significance not specified 2017-05-16 criteria provided, single submitter clinical testing The BRCA2 c.7436-4A>G variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 c.7436-4A>G was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The adenine (A) nucleotide that is altered is not conserved. In silico models are uninformative with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available evidence, it is unclear whether BRCA2 c.7436-4A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000589841 SCV000695067 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7436-4A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 2/5 programs in Alamut predict that this variant creates a novel splicing donor site. However, this prediction is not confirmed by experimental studies. This variant is absent in 120258 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as a VUS while two others classify it as likely benign and benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Because of the lack of clinical information and functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000195377 SCV000073228 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000168599 SCV000600750 uncertain significance not specified 2017-06-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031679 SCV000054286 uncertain significance Breast-ovarian cancer, familial 2 2012-03-13 no assertion criteria provided clinical testing

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