ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.997A>G (p.Thr333Ala)

gnomAD frequency: 0.00001  dbSNP: rs786201634
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Total submissions: 6
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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) RCV001003379 SCV001161513 benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000013
Ambry Genetics RCV000164011 SCV000214616 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-17 criteria provided, single submitter clinical testing The p.T333A variant (also known as c.997A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 997. The threonine at codon 333 is replaced by alanine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000701903 SCV000830726 likely benign Hereditary breast ovarian cancer syndrome 2021-12-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164011 SCV000909391 likely benign Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985454 SCV001133661 uncertain significance not provided 2018-10-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001003379 SCV001280983 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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