ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) (rs56321129)

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Total submissions: 12
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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) RCV000111984 SCV000244330 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 = 0.00000000000204
Invitae RCV000167781 SCV000076063 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000120275 SCV000167286 benign not specified 2014-04-08 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.
CSER _CC_NCGL, University of Washington RCV000148396 SCV000190095 uncertain significance Malignant tumor of prostate 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Ambry Genetics RCV000162756 SCV000213232 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120275 SCV000224984 likely benign not specified 2014-12-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120275 SCV000591419 benign not specified 2014-10-29 criteria provided, single submitter clinical testing
Color RCV000162756 SCV000910720 benign Hereditary cancer-predisposing syndrome 2015-10-28 criteria provided, single submitter clinical testing
Mendelics RCV000111984 SCV001140565 benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120275 SCV001156829 likely benign not specified 2018-08-29 criteria provided, single submitter clinical testing
ITMI RCV000120275 SCV000084427 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000111984 SCV000144612 benign Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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