ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1814T>C (p.Ile605Thr) (rs80358468)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000588653 SCV000210570 likely benign not provided 2018-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165793 SCV000216539 likely benign Hereditary cancer-predisposing syndrome 2017-09-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Counsyl RCV000077667 SCV000488453 uncertain significance Breast-ovarian cancer, familial 2 2016-03-31 criteria provided, single submitter clinical testing
Invitae RCV001082118 SCV000635181 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588653 SCV000694571 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing Variant summary: This c.1814T>C variant affects a not conserved nucleotide, resulting in amino acid change from Ile to Thr. 3/4 in-silico tools predict this variant to be benign. This variant was found in 1/118962 control chromosomes including the large and broad populations of ExAC at a frequency of 0.0000084, which does not exceed the maximal expected frequency of a pathogenic allele (0.0007503) in this gene. It was found with allele frequency of 0.0009 (1/1046 chromosomes) from ClinSeq participants. This variant has been reported in other three individuals undergoing BRCA1/2 testing (via clinical labs and a database) without evidence for or against pathogenicity. Multiple clinical labs via ClinVar have classified this variant as benign/likely benign, without evidence to independently evaluate. Taken together, this variant has currently been classified as a variant of unknown significance until more evidence becomes available.
Color Health, Inc RCV000165793 SCV001342192 likely benign Hereditary cancer-predisposing syndrome 2018-11-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000588653 SCV001501462 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001647030 SCV001854699 likely benign Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000077667 SCV000109470 benign Breast-ovarian cancer, familial 2 2010-10-06 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077667 SCV000145953 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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