Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000940858 | SCV001086726 | likely benign | Ataxia-telangiectasia syndrome | 2023-04-26 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV004588383 | SCV005084602 | likely benign | Familial cancer of breast | 2024-06-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |
| Department of Pathology and Laboratory Medicine, |
RCV001355224 | SCV001550047 | likely benign | Carcinoma of colon | no assertion criteria provided | clinical testing | The ATM c.6199-6G>A variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, COGR, Cosmic, or LOVD 3.0, databases. The variant was identified in control databases in 3 of 246096 chromosomes at a frequency of 0.00001 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European in 1 of 111630 chromosomes (freq: 0.000009), Finnish in 2 of 22300 chromosomes (freq: 0.00009), while the variant was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, and South Asian populations. The c.6199-6G>A variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. However, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) 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. |