ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3848A>G (p.His1283Arg) (rs80357047)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130141 SCV000184975 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA1) RCV000112200 SCV000144897 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000130141 SCV000909289 likely benign Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing
Counsyl RCV000112200 SCV000487969 uncertain significance Breast-ovarian cancer, familial 1 2015-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000235129 SCV000210159 likely benign not specified 2017-06-30 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 RCV000235129 SCV000918699 uncertain significance not specified 2017-09-01 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3848A>G (p.His1283Arg) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). One study (Flower_2015) based on a model of DNA methylation profiles predict the variant to be likely not pathogenic. These predictions however are not validated by functional studies. This variant was found in 2/121398 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). Multiple publications, Judkins_2005 and Jimenez_2009, cites the variant in affected individuals, however, with limited information (ie, lack of cosegregation and/or co-occurrence data), therefore, evidence for causality cannot be independently validated. In addition, multiple clinical diagnostic laboratories/reputable databases have cited the variant with conflicting classifications "likely benign" or "uncertain significance." Therefore, the variant of interest has been classified as "Variant of Uncertain Significance (VUS)," until additional information becomes available (ie, clinical and functional studies).
Sharing Clinical Reports Project (SCRP) RCV000112200 SCV000297606 likely benign Breast-ovarian cancer, familial 1 2012-08-03 no assertion criteria provided clinical testing

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