ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3130A>G (p.Ile1044Val) (rs80357271)

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Total submissions: 11
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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) RCV000031091 SCV000244335 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 = 0.00000234
Invitae RCV000195342 SCV000076090 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000048077 SCV000209949 likely benign not specified 2017-12-27 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 RCV000162795 SCV000213273 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000031091 SCV000489433 likely benign Breast-ovarian cancer, familial 1 2016-10-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048077 SCV000591428 likely benign not specified 2014-10-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586665 SCV000699004 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3130A>G (p.Ile1044Val) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 3/121366 control chromosomes at a frequency of 0.0000247, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). Multiple studies (Easton_BRCA2_AJHG_2007, Lindor_BRCA2_HM_2012, Pavlicek_HMG_2004, et al.), using different analyses such as comparative sequence comparison and computational multifactorial probability based modeling classified variant of interest as benign. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. There is an internal specimen carrying this variant also carries a deleterious BRCA2 variant. Therefore, taken together, this variant has been classified as likely benign.
PreventionGenetics,PreventionGenetics RCV000586665 SCV000806931 likely benign not provided 2017-01-10 criteria provided, single submitter clinical testing
Color RCV000162795 SCV000902950 benign Hereditary cancer-predisposing syndrome 2017-03-31 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031091 SCV000053687 benign Breast-ovarian cancer, familial 1 2008-07-29 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031091 SCV000144646 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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