ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.*1A>G

gnomAD frequency: 0.00126  dbSNP: rs11540833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822272 SCV002066321 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334708 SCV002641403 uncertain significance Diamond-Blackfan anemia 2014-08-28 criteria provided, single submitter clinical testing The c.*1A>G variant is located in the 3' untranslated region (3 UTR) of the RPL5 gene. This variant results from an A to G substitution the last translated codon. This variant was previously reported in the SNPDatabase as rs11540833. Based on data from the 1000 Genomes Project, the G allele has an overall frequency of approximately 0.1% (2/2098) total alleles studied. The highest observed frequency was 1.22% (2/164) Luhya alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.12% (15/12780) total alleles studied, having been observed in 0.34% (15/4366) African American alleles. This nucleotide position is not well conserved in available vertebrate species on limited alignment. In addition, G is the reference nucleotide in chicken, zebra finch and lizard. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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