ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3412G>T (p.Asp1138Tyr)

dbSNP: rs587780249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212335 SCV000150066 uncertain significance not provided 2024-04-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26689913, 21127055, 20159562, 35534704)
Ambry Genetics RCV000116157 SCV000172959 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-04 criteria provided, single submitter clinical testing The p.D1138Y variant (also known as c.3412G>T), located in coding exon 19 of the BRIP1 gene, results from a G to T substitution at nucleotide position 3412. The aspartic acid at codon 1138 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003460838 SCV004214768 uncertain significance Familial cancer of breast 2023-09-05 criteria provided, single submitter clinical testing
Mendelics RCV004698825 SCV005200765 uncertain significance Hereditary cancer 2024-08-12 criteria provided, single submitter clinical testing

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