ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7198G>A (p.Gly2400Ser)

gnomAD frequency: 0.00001  dbSNP: rs1244030146
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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 RCV000561627 SCV000666079 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-29 criteria provided, single submitter clinical testing The p.G2400S variant (also known as c.7198G>A), located in coding exon 13 of the BRCA2 gene, results from a G to A substitution at nucleotide position 7198. The glycine at codon 2400 is replaced by serine, 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 0.0003% (greater than 300000 alleles tested) in our clinical cohort. This amino acid position is not well 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.

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