ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1A>G (p.Met1Val) (rs80357287)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131905 SCV000186960 pathogenic Hereditary cancer-predisposing syndrome 2017-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Michigan Medical Genetics Laboratories,University of Michigan RCV000077503 SCV000195874 pathogenic Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000212153 SCV000210061 pathogenic not provided 2018-06-18 criteria provided, single submitter clinical testing The c.1A>G variant in the BRCA1 gene, also published as c.120A>G and p.Met1Val using alternate nomenclature, results in the loss of the initiator Methionine codon, and the resultant protein would be described as ?p.Met1?? to signify that it is not known if the loss of Met1 prevents all protein translation or if an abnormal protein is produced using an alternate Methionine codon. This variant has been reported in several Hereditary Breast and Ovarian Cancer families (Meindl 2002, Rostagno 2003, Walsh 2011, Cunningham 2014, Silva 2014, Heramb 2018). In addition, functional studies performed by Baert et al. 2016 demonstrate that this variant causes increased sensitivity to radiation leading to increased DNA damage as evidenced by an increase in micronuclei formation. As BRCA1 c.1A>G is predicted to alter normal protein production, it is considered to be pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212153 SCV000227402 pathogenic not provided 2014-09-04 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077503 SCV000325209 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000412727 SCV000492453 pathogenic Neoplasm of the breast criteria provided, single submitter research
Department of Medical Genetics,Oslo University Hospital RCV000077503 SCV000564342 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
Mendelics RCV000496638 SCV000839321 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000131905 SCV000905038 pathogenic Hereditary cancer-predisposing syndrome 2018-07-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077503 SCV000109303 pathogenic Breast-ovarian cancer, familial 1 2010-02-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077503 SCV000144005 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496638 SCV000586998 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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