Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112136 | SCV000299976 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Color Diagnostics, |
RCV001180644 | SCV001345621 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-25 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Pathogenic. |
Invitae | RCV001383056 | SCV001582075 | pathogenic | Hereditary breast ovarian cancer syndrome | 2018-10-17 | criteria provided, single submitter | clinical testing | This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 54938). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1207*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV001180644 | SCV002617487 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-02 | criteria provided, single submitter | clinical testing | The p.K1207* pathogenic mutation (also known as c.3619A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3619. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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. |
Revvity Omics, |
RCV003137589 | SCV003818467 | likely pathogenic | not provided | 2022-11-29 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000112136 | SCV000144811 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |