ClinVar Miner

Submissions for variant NM_020469.3(ABO):c.[1061del;467C>T989T>C]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Australian Red Cross Blood Service RCV001544501 SCV001762283 affects ABO blood group system 2021-07-01 no assertion criteria provided research Three of these four variants (c.260_261insG, c.467C>T and c.1061delC) define the ABO*A2.01 allele however we found an additional variant (c.989T>C) present in this sample. Due to proximity of c.989T>C and c.1061delC we can confirm from viewing of the sequence read mapping that c.989T>C travels in cis with c.1061delC. Observed serology showed extremely weak expression of the A antigen. ABO*A subgroup.

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