Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480590 | SCV000566956 | pathogenic | not provided | 2019-08-07 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Observed in individuals with breast cancer (Renault 2018); This variant is associated with the following publications: (PMID: 25525159, 15280931, 15101044, 8845835, 15390180, 12745884, 14970866, 29665859) |
Labcorp Genetics |
RCV000627965 | SCV000748851 | pathogenic | Ataxia-telangiectasia syndrome | 2023-02-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 8845835). ClinVar contains an entry for this variant (Variation ID: 419265). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln2714*) 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). |
Ambry Genetics | RCV001027217 | SCV001189735 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-03-08 | criteria provided, single submitter | clinical testing | The p.Q2714* pathogenic mutation (also known as c.8140C>T), located in coding exon 54 of the ATM gene, results from a C to T substitution at nucleotide position 8140. This changes the amino acid from a glutamine to a stop codon within coding exon 54. This alteration has reported in the homozygous and compound heterozygous state in individuals diagnosed with ataxia telangiectasia (Gilad S et al. Hum. Mol. Genet. 1996 Apr;5:433-9; Cavaciuti E et al. Genes Chromosomes Cancer 2005 Jan;42:1-9). Functional studies have demonstrated increased radiosensitivity and decreased mRNA expression in cell lines containing this alteration in the homozygous/compound heterozygous state or heterozygous state (Fernet M et al. Int. J. Radiat. Biol., 2003 Mar;79:193-202; Gutiérrez-Enríquez S et al. Genes Chromosomes Cancer 2004 Jun;40:109-19). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
Baylor Genetics | RCV003155945 | SCV004212123 | pathogenic | Familial cancer of breast | 2023-01-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003492069 | SCV004239527 | pathogenic | Breast and/or ovarian cancer | 2023-05-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003155945 | SCV004932394 | pathogenic | Familial cancer of breast | 2024-02-01 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Genome Diagnostics Laboratory, |
RCV000480590 | SCV001808436 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000480590 | SCV001906340 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
BRCAlab, |
RCV003155945 | SCV002589041 | pathogenic | Familial cancer of breast | 2022-08-26 | no assertion criteria provided | clinical testing | |
Laboratory for Genotyping Development, |
RCV003168944 | SCV002758110 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |