het FANCA del ex 15-22

[Maria Kurnikova]

Dear HGVS Experts, 

NGS targeted panel analysis revealed a heterozygous deletion of exons 15-22 in FANCA (reduced coverage in IGV and in silico analysis). Could you please clarify if, in this case, we can describe the deletion at the genomic level (prior to MLPA confirmation):

NC_000016.10:g.(?_89773271)_(89784964_?)del

where 89773271 is the position of the last nucleotide of exon 22, and 89784964 is the position of the first nucleotide of exon 15,

or only at the cDNA level:

FANCA(NM_000135.4):c.(1359+1_1360-1)_(2014+1_2015-1)del

where (1359+1_1360-1) are the boundaries of intron 14, and (2014+1_2015-1) are the boundaries of intron 22.

Kind regards, 

Maria.