Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077293 | SCV000282376 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-04-22 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Ambry Genetics | RCV000219806 | SCV000276405 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-08-02 | criteria provided, single submitter | clinical testing | The p.L105* pathogenic mutation (also known as c.314T>G), located in coding exon 2 of the BRCA2 gene, results from a T to G substitution at nucleotide position 314. This changes the amino acid from a leucine to a stop codon within coding exon 2. This mutation has been reported in one HBOC family (Thiffault I et al. Br. J. Cancer. 2004 Jan;90:483-91) and has been seen in two Australian patients diagnosed with triple negative breast cancer at 46 and 89 years old, respectively (Wong-Brown MW et al. Breast Cancer Res. Treat. 2015 Feb;150:71-80). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). 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. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000077293 | SCV000326816 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000496591 | SCV000586915 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000496591 | SCV002234051 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu105*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of HBOC syndrome (PMID: 14735197, 25682074, 29446198). ClinVar contains an entry for this variant (Variation ID: 51406). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003473324 | SCV004212833 | pathogenic | Familial cancer of breast | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000077293 | SCV000109090 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2009-02-28 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077293 | SCV000146563 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Foulkes Cancer Genetics LDI, |
RCV000735536 | SCV000863674 | pathogenic | Breast and/or ovarian cancer | 2000-12-05 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001358503 | SCV001554256 | uncertain significance | not provided | no assertion criteria provided | clinical testing |