ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter)

dbSNP: rs80357291
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Total submissions: 7
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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) RCV000112544 SCV000300217 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.
GeneDx RCV000657594 SCV000779333 pathogenic not provided 2015-10-22 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.5173G>T at the cDNA level and p.Glu1725Ter (E1725X) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 5292G>T. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a family with several breast and ovarian cancer diagnoses (Bergman 2005) and is considered pathogenic.
Color Diagnostics, LLC DBA Color Health RCV001179279 SCV001343894 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 18 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. 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 (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Invitae RCV002513666 SCV003441896 pathogenic Hereditary breast ovarian cancer syndrome 2023-05-23 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: 55442). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 30702160). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1725*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112544 SCV000145369 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 1999-12-30 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000112544 SCV001243717 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro
BRCAlab, Lund University RCV000112544 SCV004243938 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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