Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205681 | SCV001376950 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-10-19 | 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: 936802). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 30287823). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1635Glufs*3) 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). |
Ambry Genetics | RCV002339521 | SCV002636895 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-08 | criteria provided, single submitter | clinical testing | The c.4903_4904delTT pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 4903 to 4904, causing a translational frameshift with a predicted alternate stop codon (p.L1635Efs*3). 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. |
Laboratory for Genotyping Development, |
RCV003163561 | SCV002758428 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |