ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2465A>G (p.Asn822Ser)

dbSNP: rs1555589630
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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 RCV000567014 SCV000673036 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-25 criteria provided, single submitter clinical testing The p.N822S variant (also known as c.2465A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2465. The asparagine at codon 822 is replaced by serine, an amino acid with highly similar 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 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0003% (greater than 300000 alleles tested) in our clinical cohort. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000567014 SCV003847651 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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