ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.170G>A (p.Gly57Asp) (rs34439278)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000016405 SCV000885554 likely benign not specified 2019-01-08 criteria provided, single submitter clinical testing The Hb J-Bangkok variant (HBB: c.170G>A; p.Gly57Asp, also known as Gly56Asp when numbered from the mature protein) (rs34439278), also known as Hb J-Meinung, is the most common stable variant found in Taiwanese individuals and has been reported in the heterozygous state in asymptomatic individuals with normal hematological parameters (Zhao 2013, HbVar and references therein). In individuals carrying a beta-+/0 variant, Hb J-Bangkok is not associated with more severe symptoms or hematology than those with the beta-+/0 variant alone (Chang 2002, Zhao 2013). The Hb J-Bangkok variant is reported in ClinVar (Variation ID: 15214) and is observed in the East Asian population at an overall frequency of 0.03% (5/19946 alleles) in the Genome Aggregation Database. The glycine at codon 56 is moderately conserved, but computational algorithms (SIFT: low confidence predictions, PolyPhen-2: possibly damaging) are inconclusive on the effect of this variant on protein structure and/or function. Based on available information, this variant is considered likely benign. References: Link to HbVar: Chang J et al. Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family. Hemoglobin. 2002 Aug;26(3):325-8. Zhao Y et al. Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and beta-thalassemia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):148-51.
OMIM RCV000016405 SCV000036673 benign not specified 2017-12-12 no assertion criteria provided literature only

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