ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.537A>G (p.Glu179=) (rs775509896)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165068 SCV000215770 likely benign Hereditary cancer-predisposing syndrome 2014-07-23 criteria provided, single submitter clinical testing
Invitae RCV000196641 SCV000255176 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-16 criteria provided, single submitter clinical testing This sequence change affects codon 179 of the BRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRIP1 protein. This variant is present in population databases (rs775509896, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 185619). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
GeneDx RCV000524004 SCV000618457 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.537A>G at the DNA level. Although this variant is silent at the coding level, preserving a Glutamic Acid at codon 179, it is predicted to cause abnormal splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 c.537A>G was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The nucleotide which is altered, an adenine (A) at base 537, is not conserved. Based on currently available information, it is unclear whether BRIP1 c.537A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000165068 SCV001351673 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-13 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000524004 SCV001364460 uncertain significance not provided 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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