ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3327A>C (p.Lys1109Asn) (rs41293449)

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Total submissions: 10
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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) RCV000031103 SCV000244339 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 = 0.0000307
Ambry Genetics RCV000162723 SCV000213185 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Invitae RCV000205796 SCV000261249 benign Hereditary breast and ovarian cancer syndrome 2017-12-06 criteria provided, single submitter clinical testing
Counsyl RCV000031103 SCV000488284 benign Breast-ovarian cancer, familial 1 2016-02-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000205796 SCV000494431 likely benign Hereditary breast and ovarian cancer syndrome 2016-02-11 criteria provided, single submitter clinical testing Variant Summary: The variant of interest causes a missense change involving a non-conserved nucleotide with 3/4 in silico programs (SNPs&Go not captured here due to low reliability index) predict a "deleterious" outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 11/121028 (1/11002), predominantly in the European (Non-Finnish) cohort, 11/66704 (1/6064), which does not exceed the maximum expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest has been reported in multiple affected individuals via publications including one individual having a co-occurrence with another pathogenic BRCA1 variant, c.427G>T (p.Glu143X). In addition, multiple reputable databases/clinical laboratories and publications cite the variant with a classification of "benign/neutral." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as likely benign.
GeneDx RCV000432399 SCV000512300 likely benign not specified 2017-03-03 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000432399 SCV000591436 uncertain significance not specified 2012-02-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586144 SCV000699012 likely benign not provided 2016-02-11 criteria provided, single submitter clinical testing
Color RCV000162723 SCV000903026 benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031103 SCV000053699 benign Breast-ovarian cancer, familial 1 2010-11-30 no assertion criteria provided clinical testing

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