ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.122G>A (p.Arg41Lys) (rs34831026)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999894 SCV000883976 likely benign not specified 2018-08-28 criteria provided, single submitter clinical testing The Hb Athens-Georgia variant (c.122G>A; p.Arg41Lys, also known as Arg40Lys when numbered from the mature protein) has been described as having a slightly increased oxygen affinity, but normal Bohr effect and heme-heme interaction (Brown 1976, see HbVar link). This variant has not been associated with any clinically significant phenotype, even when found as compound heterozygous with a beta 0-thalassemia variant (Mrad 1989). This variant is reported in the ClinVar database (Variation ID: 15099), and found in the general population with an overall allele frequency of 0.002% (4/246162 alleles) in the Genome Aggregation Database. Based on available information, this variant is considered to be likely benign. REFERENCES Link to HbVar database for Arg40Lys: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=310&.cgifields=histD Brown WJ et al. Hemoglobin Athens-Georgia, or alpha 2 beta 2 40(C6)Arg replaced by Lys, a hemoglobin variant with an increased oxygen affinity. Biochim Biophys Acta. 1976 Jul 19;439(1):70-6. Mrad A et al. Hemoglobin Athens-Georgia [alpha 2 beta 2 40(C6)Arg----Lys] in association with beta 0-thalassemia in Tunisia. Am J Hematol. 1989 Oct;32(2):117-22.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756230 SCV000889360 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
OMIM RCV000016252 SCV000036520 other HEMOGLOBIN ATHENS-GEORGIA 2017-12-12 no assertion criteria provided literature only

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