ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.186G>C (p.Lys62Asn) (rs34446260)

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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 RCV001000562 SCV001157514 likely benign not specified 2019-05-02 criteria provided, single submitter clinical testing The Hb Hikari (HBB: c.186G>C; p.Lys62Asn, also known as Lys61Asn when numbered from the mature protein; rs34446260) is reported in the literature in the heterozygous state in individuals without reported hematological abnormalities (Nakatsuji 1981, HbVar and references therein). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The lysine at codon 62 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious, although these predictions are not high-confidence. Further, functional analyses indicate that the variant protein is stable and exhibits normal oxygen-binding properties (Nakatsuji 1981). Based on available information, the Hb Hikari variant is considered to be likely benign. References: HbVar link to Hb Hikari: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=354 Nakatsuji T et al. A further example of hemoglobin Hikari (beta 61[E5] Lys replaced by Asn). Hemoglobin. 1981;5(5):487-92.
OMIM RCV000016379 SCV000036647 other HEMOGLOBIN HIKARI 2017-12-12 no assertion criteria provided literature only

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