ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2450-6C>G (rs754515125)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Reproductive and Stem Cell Engineering,Central South University RCV000660882 SCV000680459 pathogenic Androgen resistance syndrome 2018-02-01 criteria provided, single submitter clinical testing Sequence analysis of the AR gene in a AIS patient’s genomic DNA revealed a novel polypyrimidine tract mutation: cytosine to guanine, at position c.2450‑6 (c.2450‑6C>G) in intron 6. The patient’s mother and sister were heterozygous for this mutation, but the mutation was not present in her father or brother, or 100 unrelated normal controls. To determine the functional consequences of the mutation, the resulting messenger RNA (mRNA) transcript was analyzed. Subsequent sequence analysis of the RT‑PCR (reverse transcription polymerase chain reaction) products demonstrated an insertion of 5 nucleotides in the junction between exons 6 and 7 (c.2449‑c.2450insATCAG). The mutation generated a new splice acceptor site upstream of the original site, resulting in incorrect pre‑mRNA splicing. The aberrant splicing transcript resulted in the introduction of a premature stop codon, thus producing a truncated protein (823 amino acids, p.Ile817Asnfs*8)

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