ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3964A>G (p.Lys1322Glu)

dbSNP: rs80357343
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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 RCV000217442 SCV000276387 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-07 criteria provided, single submitter clinical testing The p.K1322E variant (also known as c.3964A>G and 4083A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 3964. The lysine at codon 1322 is replaced by glutamic acid, an amino acid with 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 0.001% (greater than 150000 alleles tested) in our clinical cohort. This amino acid position is 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.K1322E remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000217442 SCV003849410 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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