ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.504G>A (p.Gln168=) (rs1064795698)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567711 SCV000668914 likely benign Hereditary cancer-predisposing syndrome 2016-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000487338 SCV000571738 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.504G>A at the DNA level. This variant is silent at the coding level, preserving a Glutamine at codon 168. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. BRIP1 c.504G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotide which is altered, a guanine (G) at base 504, is conserved across species. Based on currently available information, it is unclear whether BRIP1 c.504G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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