ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.*113A>G (rs33985472)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000445642 SCV000790649 likely pathogenic beta Thalassemia 2017-04-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780336 SCV000917508 pathogenic Hemoglobinopathy 2017-12-18 criteria provided, single submitter clinical testing Variant summary: The HBB c.*113A>G (a.k.a. Poly(A) AATAAA>AATAAG) variant involves the alteration of a non-conserved nucleotide located at the last neocleotide of the polyA tail. One in silico tool predicts a damaging outcome for this variant. Analysis of RNA derived from peripheral blood of patients carrying this mutation revealed several species of extended transcripts, indicating that the mutation interferes with mRNA cleavage (Rund_1991). This variant is absent in 30966 control chromosomes in gnomAD. It has been reported in numerous BTHAL patients (both intermediate and major types) ((Rund_1991, Shaji_2003, Khelil_2010, and Kalla_1997). Rund_1991 noted that this mutation leads to a moderate beta+thalassemia phenotype: patients who are compound heterozygotes for this mutation and a beta0 mutation require transfusions less frequently than most patients with beta+thalassemia major. ithanet lists variant as 'Globin gene causative mutation' with relative frequencies of 2.5% in Israel and 0.2% in Oman. Taken together, this variant is classified as pathogenic.
OMIM RCV000016731 SCV000037001 pathogenic Beta-plus-thalassemia 1992-05-15 no assertion criteria provided literature only
GeneReviews RCV000445642 SCV000537302 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only

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