ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.694G>A (p.Asp232Asn) (rs55975699)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049101 SCV000077114 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131176 SCV000186123 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112773 SCV000296465 uncertain significance Breast-ovarian cancer, familial 1 2016-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000590689 SCV000566874 uncertain significance not provided 2018-02-21 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.694G>A at the cDNA level, p.Asp232Asn (D232N) at the protein level, and results in the change of an Aspartic Acid to an Asparagine (GAT>AAT). Using alternate nomenclature, this variant would be defined as BRCA1 813G>A. This variant was observed in at least one individual with a personal history of breast cancer (Ricks-Santi 2017). BRCA1 Asp232Asn was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in a region known to interact with multiple proteins (Paul 2014). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA1 Asp232Asn is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000590689 SCV000699295 uncertain significance not provided 2016-11-04 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.694G>A (p.Asp232Asn) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 1/100764 control chromosomes at a frequency of 0.0000099, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant of interest has been observed in affected individuals via one publication (Judkins_2005) without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as VUS.
PreventionGenetics,PreventionGenetics RCV000590689 SCV000806983 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
Color RCV000131176 SCV000902979 likely benign Hereditary cancer-predisposing syndrome 2016-04-20 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112773 SCV000145666 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Pathway Genomics RCV000112773 SCV000207335 uncertain significance Breast-ovarian cancer, familial 1 2014-11-06 no assertion criteria provided clinical testing

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