Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077021 | SCV000301253 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000508129 | SCV000600790 | pathogenic | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000508129 | SCV000693587 | pathogenic | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | This is a deletion of 10 base pairs, which results in frameshift and creation of a new stop codon at amino acid residue 2734 of the BRCA2 gene. It is expected to result in a truncated, non-functional protein. This variant has not been described in the bibliography or in population databases (1000G, ExAC and ESP). The mutation database ClinVar contains an entry for this variant (Variation ID: 91504). |
Ambry Genetics | RCV001027273 | SCV001189807 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-02-27 | criteria provided, single submitter | clinical testing | The c.8200_8209del10 pathogenic mutation, located in coding exon 17 of the BRCA2 gene, results from a deletion of 10 nucleotides at nucleotide positions 8200 to 8209, causing a translational frameshift with a predicted alternate stop codon (p.P2734*). 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. |
Invitae | RCV001070617 | SCV001235878 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 91504). This premature translational stop signal has been observed in individual(s) with clinical features of BRCA2-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro2734*) 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). |
Sharing Clinical Reports Project |
RCV000077021 | SCV000108818 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2009-11-23 | no assertion criteria provided | clinical testing | |
BRCAlab, |
RCV000077021 | SCV004243808 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2020-03-02 | no assertion criteria provided | clinical testing |