Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000129915 | SCV000184733 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-08-05 | criteria provided, single submitter | clinical testing | The c.5893_5897delAAAAG pathogenic mutation, located in coding exon 38 of the ATM gene, results from a deletion of 5 nucleotides at nucleotide positions 5893 to 5897, causing a translational frameshift with a predicted alternate stop codon (p.K1965Yfs*3). This mutation was reported in a woman with breast cancer diagnosed at age 41 who also carried a BARD1 mutation (Tung N et al. Cancer 2015 Jan;121:25-33; DeLeonardis K et al. Breast J. 2017 Jul;23:461-464). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Labcorp Genetics |
RCV001389167 | SCV001590434 | pathogenic | Ataxia-telangiectasia syndrome | 2022-01-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 141409). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25186627). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1965Tyrfs*3) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). |
| Baylor Genetics | RCV003460907 | SCV004216216 | pathogenic | Familial cancer of breast | 2021-08-27 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003460907 | SCV004931114 | pathogenic | Familial cancer of breast | 2024-01-26 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Laboratory for Genotyping Development, |
RCV003162576 | SCV002758399 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |