ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)

dbSNP: rs80358806
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113482 SCV000300928 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.
Color Diagnostics, LLC DBA Color Health RCV000579768 SCV000683733 pathogenic Hereditary cancer-predisposing syndrome 2020-05-18 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 11 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/250688 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Revvity Omics, Revvity Omics RCV001353802 SCV002024745 pathogenic not provided 2020-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579768 SCV002652102 pathogenic Hereditary cancer-predisposing syndrome 2021-08-31 criteria provided, single submitter clinical testing The p.Q1925* pathogenic mutation (also known as c.5773C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 5773. This changes the amino acid from a glutamine to a stop codon within coding exon 10. 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 RCV003460596 SCV004214598 pathogenic Familial cancer of breast 2020-12-29 criteria provided, single submitter clinical testing
Invitae RCV000496735 SCV004517523 pathogenic Hereditary breast ovarian cancer syndrome 2023-04-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1925*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 51933). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer (PMID: 31825140). This variant is present in population databases (rs80358806, gnomAD 0.0009%).
Breast Cancer Information Core (BIC) (BRCA2) RCV000113482 SCV000146695 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2003-12-23 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496735 SCV000587797 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353802 SCV000592001 pathogenic not provided no assertion criteria provided clinical testing

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