ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7102T>G (p.Leu2368Val) (rs397507382)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132508 SCV000187604 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Color RCV000132508 SCV000910908 benign Hereditary cancer-predisposing syndrome 2016-12-05 criteria provided, single submitter clinical testing
Counsyl RCV000031666 SCV000487804 uncertain significance Breast-ovarian cancer, familial 2 2015-11-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000445338 SCV000592098 likely benign not specified 2017-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000445338 SCV000512384 likely benign not specified 2018-02-26 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.
Integrated Genetics/Laboratory Corporation of America RCV000586496 SCV000695039 likely benign not provided 2016-04-01 criteria provided, single submitter clinical testing Variant summary: This c.7102T>G variant affects a non-conserved nucleotide, resulting in amino acid change from Leu to Val. 4/4 in-silico tools predict this variant to be benign This variant was found in 13/121292 control chromosomes at a frequency of 0.0001072, predominantly observed in the East Asian subpopulation at a frequency of 0.0015 (13/8654 chromosomes). This frequency exceeds the maximal expected frequency of a pathogenic allele (0.0007503) in this gene suggesting that this variant is likely to be a benign polymorphism found in East Asian population. This variant has also been reported in one female patient with breast and brain cancers who also had p.W2626X. Multiple clinical labs classify this variant as benign. Taken together, this variant has currently been classified as likely benign.
Invitae RCV000206651 SCV000261841 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031666 SCV000054273 benign Breast-ovarian cancer, familial 2 2011-11-08 no assertion criteria provided clinical testing

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