ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter)

dbSNP: rs80357167
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Total submissions: 5
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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) RCV000256732 SCV000323320 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256732 SCV000325076 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000519520 SCV000617454 pathogenic not provided 2017-07-26 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1465G>T at the cDNA level and p.Glu489Ter (E489X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon(GAG>TAG), 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 association with hereditary breast and ovarian cancer (Zhi2002, Cao 2016) and is considered pathogenic
3DMed Clinical Laboratory Inc RCV000677813 SCV000803972 pathogenic Breast neoplasm 2017-11-20 criteria provided, single submitter clinical testing
Invitae RCV001386706 SCV001587047 pathogenic Hereditary breast ovarian cancer syndrome 2020-05-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 12442274, 31174498, 30078507). This variant is also known as c.1584G>T in the literature. ClinVar contains an entry for this variant (Variation ID: 54262). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu489*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.

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