ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2894T>G (p.Leu965Arg)

dbSNP: rs876660682
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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 RCV000221647 SCV000278309 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-14 criteria provided, single submitter clinical testing The p.L965R variant (also known as c.2894T>G), located in coding exon 9 of the BRCA1 gene, results from a T to G substitution at nucleotide position 2894. The leucine at codon 965 is replaced by arginine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 150000 alleles tested) in our clinical cohort. This amino acid position is not well 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 p.L965R remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000221647 SCV003849275 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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