ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3797G>C (p.Ser1266Thr) (rs80357160)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112189 SCV000244349 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000113
Invitae RCV000587547 SCV000076349 benign not provided 2019-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000048336 SCV000209960 likely benign not specified 2018-01-03 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.
Counsyl RCV000112189 SCV000221022 benign Breast-ovarian cancer, familial 1 2015-01-14 criteria provided, single submitter literature only
Ambry Genetics RCV000215145 SCV000274191 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587547 SCV000699073 likely benign not provided 2017-05-22 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3797G>C (p.Ser1266Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). The variant of interest has not been found in a large, broad control population, ExAC in 121398 control chromosomes. The variant is reported in the literature in affected individuals without strong evidence for causality. Multifactorial models which combine prior probabilities of causality derived from an evolutionary sequence conservation model and likelihoods of causality (FH, segregation, co-occurrence with deleterious variants and histopathology data) report the variant as neutral (Easton_2007, Lindor_2012). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign including one database report of the variant to co-occur with a pathogenic BRCA2 variant, supporting the benign role of this variant. Taken together, this variant is classified as Likely Benign.
Color RCV000215145 SCV000903072 benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112189 SCV000144884 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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