ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) (rs80357718)

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Total submissions: 7
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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) RCV000083210 SCV000300156 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083210 SCV000326037 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 RCV000412824 SCV000492456 pathogenic Neoplasm of the breast criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757035 SCV000885074 pathogenic not provided 2018-02-22 criteria provided, single submitter clinical testing The BRCA1 c.4712_4716delTCTCT; p.Phe1571Ter variant (rs80357718), also known as c.4831del5, is published in the medical literature in one individual with hereditary breast and ovarian cancer (Silva 2014). This variant is described in the ClinVar database (Variation ID: 55269). This deletion removes 5 nucleotides and results in an immediate stop codon. The variant is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, the variant is classified as pathogenic. References: Silva FC et al. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med Genet. 2014 May 15;15:55.
Sharing Clinical Reports Project (SCRP) RCV000083210 SCV000115284 pathogenic Breast-ovarian cancer, familial 1 2012-12-21 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083210 SCV000145165 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496301 SCV000587423 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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