ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.787+1435C>G (rs80357051)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214807 SCV000275313 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Insufficient evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneDx RCV000767205 SCV000566591 uncertain significance not provided 2015-05-13 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2222C>G at the cDNA level, p.Ser741Cys (S741C) at the protein level, and results in the change of a Serine to a Cysteine (TCT>TGT). Using alternate nomenclature, this variant would be defined as BRCA1 2341C>G. BRCA1 Ser741Cys was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Serine and Cysteine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Ser741Cys occurs at a position that is not conserved and is located within the DNA binding domain (Narod 2004). Published evolutionary conservation analyses predicted that this variant may have an effect on protein function, while in silico analyses are inconsistent regarding the effect this variant may have on protein structure and function (Fleming 2003, Ramirez 2004, Burk-Herrick 2006). Based on currently available information, it is unclear whether BRCA1 Ser741Cys is pathogenic or benign. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000486164 SCV000600278 uncertain significance not specified 2017-04-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000486164 SCV000602735 uncertain significance not specified 2017-03-29 criteria provided, single submitter clinical testing
Counsyl RCV000111801 SCV000784884 uncertain significance Breast-ovarian cancer, familial 1 2017-01-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111801 SCV000144346 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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