ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8411C>A (p.Pro2804His)

dbSNP: rs876658705
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222931 SCV000274316 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing The p.P2804H variant (also known as c.8411C>A or 8639C>A), located in coding exon 18 of the BRCA2 gene, results from a C to A substitution at nucleotide position 8411. The proline at codon 2804 is replaced by histidine, 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 105000 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.P2804H remains unclear.

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