This inferred allele was assessed at IARC meeting 100 on June 8th, 2022. IGHV1-69*06_G240A was inferred in subject S45 (VDJ-base: P1_I48_S1). The genotype also carried IGHV1-69*01 and IGHV1-69*06. Given the common duplication of IGHV1-69 in the human IGHV locus, this is not an unexpected finding. The inference was supported by a relative large number of sequences (680) and unmutated sequences (627), a high overall frequency in the unmutated population (2.4%) and a large and diverse set of unique CDR3s (607) in the unmutated sequence set. Its allelic ratio was 22%. Haplotyping based on allelic diversity in IGHJ6 was not possible. IARC affirms the sequence at level 1 up to and including base 319 in agreement with past practice. It is acknowledged that the allele most likely carries one additional base, typically A at base position 320. A trailing “.” indicates IARC’s opinion that the sequence is likely to contain one additional 3’-nucleotides for which there is insufficient evidence to make an affirmation. The allele is given the name IGHV1-69(D)*i04. This name highlights the uncertainty of which of the two duplicated genes the allele is most likely associated with.

Additional information for this sequence was imported into OGRDB via bulk update with the following notes:
Sequence annotation is based on VDJbase sample(s)
VDJbase example haplotype: P1_I48