ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4392T>A (p.Pro1464=) (rs794727102)

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Total submissions: 4
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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) RCV000495078 SCV000578169 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02;
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174568 SCV000225888 uncertain significance not provided 2014-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000217273 SCV000276825 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-14 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Other data supporting pathogenic classification
Invitae RCV000529579 SCV000635970 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-07-12 criteria provided, single submitter clinical testing This sequence change affects codon 1464 of the BRCA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 20215541, 28288110). ClinVar contains an entry for this variant (Variation ID: 194243). Analysis of the mRNA from an individual with two variants in the BRCA1 gene (c.4379G>A and c.4392T>A) showed altered mRNA splicing. It is unknown which variant, if either, is responsible for the aberrant splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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