ClinVar

Description

ATM, EXON52, c.7788+8G>T, r.(spl)?, Heterozygous, Likely Benign The ATM c.7788+8G>T variant was not identified in the literature nor was it identified in the Cosmic, MutDB, or LOVD 3.0 databases. The variant was identified in the following databases: dbSNP (ID: rs112775908) as “With other allele”, ClinVar (as likely benign by ARUP Laboratories and PreventionGenetics, and as benign by GeneDx and Invitae), Clinvitae (as likely benign and benign). The variant was identified in control databases in 404 of 276410 chromosomes (1 homozygous) at a frequency of 0.001462 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). Observations by population include African in 7 of 24012 chromosomes (freq: 0.000292), Other in 4 of 6446 chromosomes (freq: 0.000621), Latino in 18 of 34394 chromosomes (freq: 0.000523), European (Non-Finnish) in 355 (1 homozygous) of 126082 chromosomes (freq: 0.002816), Ashkenazi Jewish in 11 of 10126 chromosomes (freq: 0.001086), and European (Finnish) in 9 of 25766 chromosomes (freq: 0.000349), while the variant was not observed in the East Asian and South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.