ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) (rs55808233)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414204 SCV000492489 uncertain significance Neoplasm of the breast criteria provided, single submitter research
Ambry Genetics RCV000129758 SCV000184565 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031240 SCV000145474 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129758 SCV000683302 likely benign Hereditary cancer-predisposing syndrome 2015-12-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000167822 SCV000591619 uncertain significance Hereditary breast and ovarian cancer syndrome 2013-08-07 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735500 SCV000863638 uncertain significance Breast and/or ovarian cancer 2013-10-07 no assertion criteria provided clinical testing
GeneDx RCV000048954 SCV000209991 likely benign not specified 2018-02-01 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000167822 SCV000267852 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585920 SCV000699247 benign not provided 2016-06-06 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5348C>T is a missense variant that changes a conserved T to C, resulting in an amino acid change from Met to Thr at codon 1783 in the C-terminal BRCT domain of BRCA1. This variant is predicted to be damaging by 5/5 in-silico tools. Functional studies indicate that the variant slightly reduces BRCA1 structural stability, has intermediate phosphopeptide-binding activity, reduced transcriptional activity, and 66% of wild type BRCA1 HDR function.This variant was found in 21/121366 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.001929 (20/10368). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. Although this variant was reported in multiple patients in the literature and databases, lack of co-segregation (McKean Cowdin_HumGen_2005) and multiple co-occurrences with pathogenic variants (UMD database) were found in some of these patients/families. In addition, multiple reputable sources classify this variant as likely benign/benign. Taken together, this variant was scored as Benign.
Invitae RCV000167822 SCV000076967 benign Hereditary breast and ovarian cancer syndrome 2017-12-29 criteria provided, single submitter clinical testing
Mendelics RCV000167822 SCV000839211 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Pathway Genomics RCV000031240 SCV000223746 likely benign Breast-ovarian cancer, familial 1 2014-10-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031240 SCV000053844 benign Breast-ovarian cancer, familial 1 2009-08-05 no assertion criteria provided clinical testing

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