ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3220A>G (p.Arg1074Gly) (rs80357263)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221174 SCV000276311 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000767060 SCV000565924 uncertain significance not provided 2015-03-17 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3220A>G at the cDNA level, p.Arg1074Gly (R1074G) at the protein level, and results in the change of an Arginine to a Glycine (AGA>GGA). Using alternate nomenclature, this variant would be defined as BRCA1 3339A>G. This variant has not been published in the literature to our knowledge as a mutation or benign polymorphism. BRCA1 Arg1074Gly was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project or 1000 Genomes. Since Arginine and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Arg1074Gly occurs at a position that is not conserved across species and is located in the within the DNA-binding domain (Narod 2004). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA1 Arg1074Gly is pathogenic or benign. We consider it to be a variant of uncertain significance.
Department of Pathology and Molecular Medicine,Queen's University RCV000485156 SCV000588044 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112031 SCV000144679 uncertain significance Breast-ovarian cancer, familial 1 1997-02-15 no assertion criteria provided clinical testing

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