ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2874A>T (p.Leu958=) (rs886041147)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563681 SCV000661492 likely benign Hereditary cancer-predisposing syndrome 2015-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000275673 SCV000329164 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2874A>T at the DNA level. This variant is silent at the coding level, preserving a Leucine at codon 958. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. BRIP1 c.2874A>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a adenine (A) at base 2874, is conserved in mammals. Based on currently available information, it is unclear whether BRIP1 c.2874A>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000636226 SCV000757658 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-09-28 criteria provided, single submitter clinical testing

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