ClinVar Miner

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

dbSNP: rs33985472
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Total submissions: 5
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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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000445642 SCV000917508 pathogenic beta Thalassemia 2021-07-19 criteria provided, single submitter clinical testing Variant summary: HBB c.*113A>G (a.k.a. Poly(A) AATAAA>AATAAG) variant involves the alteration of a non-conserved nucleotide located at the last nucleotide of the polyA tail. 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). The variant was absent in 31396 control chromosomes (gnomAD). It has been reported in numerous BTHAL patients (both intermediate and major types) (example: Rund_1991, Shaji_2003, Khelil_2010, and Kalla_1997). Rund et al noted that this mutation leads to a moderate Beta+thalassemia phenotype and patients who are compound heterozygotes for this mutation and a beta0 mutation require transfusions less frequently than most patients with Beta+thalassemia major (Rund_1991). Two other ClinVar submitters (evaluation after 2014) cite the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV002513070 SCV003439600 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the HBB gene. It does not change the encoded amino acid sequence of the HBB protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with autosomal recessive beta thalassemia (PMID: 1374896, 24719849). This variant is also known as Poly A (AATAAA>AATAAG). ClinVar contains an entry for this variant (Variation ID: 15473). Studies have shown that this variant alters HBB gene expression (PMID: 1374896). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000016731 SCV000037001 pathogenic Beta-plus-thalassemia 1992-05-15 no assertion criteria provided literature only
GeneReviews RCV000445642 SCV000537302 not provided beta Thalassemia no assertion provided literature only

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