Submissions for variant NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) (rs80359097)

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Total submissions: 9

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000045529	SCV000073542	likely benign	Hereditary breast and ovarian cancer syndrome	2019-12-30	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories,University of Michigan	RCV000077440	SCV000195954	likely benign	Breast-ovarian cancer, familial 2	2014-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000164639	SCV000215303	likely benign	Hereditary cancer-predisposing syndrome	2018-05-25	criteria provided, single submitter	clinical testing	Other data supporting benign classification;In silico models in agreement (benign)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia	RCV000045529	SCV000257620	uncertain significance	Hereditary breast and ovarian cancer syndrome	2015-06-19	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000077440	SCV001272872	uncertain significance	Breast-ovarian cancer, familial 2	2017-07-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina	RCV001114949	SCV001272873	uncertain significance	Fanconi anemia, complementation group D1	2017-07-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color	RCV000164639	SCV001353631	uncertain significance	Hereditary cancer-predisposing syndrome	2019-05-16	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000077440	SCV000109238	likely benign	Breast-ovarian cancer, familial 2	2012-05-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000077440	SCV000145779	uncertain significance	Breast-ovarian cancer, familial 2	2004-02-20	no assertion criteria provided	clinical testing

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