ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160209 SCV000210570 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000165793 SCV000216539 likely benign Hereditary cancer-predisposing syndrome 2017-09-25 criteria provided, single submitter clinical testing Other data supporting benign classification;In silico models in agreement (benign)
Counsyl RCV000077667 SCV000488453 uncertain significance Breast-ovarian cancer, familial 2 2016-03-31 criteria provided, single submitter clinical testing
Invitae RCV000588653 SCV000635181 likely benign not provided 2018-12-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.
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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