ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)

dbSNP: rs886040778
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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) RCV000256588 SCV000324668 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 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 RCV000256588 SCV000327898 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000496945 SCV000592195 likely pathogenic Hereditary breast ovarian cancer syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV002446506 SCV002676706 pathogenic Hereditary cancer-predisposing syndrome 2021-05-26 criteria provided, single submitter clinical testing The p.R2824* pathogenic mutation (also known as c.8470A>T), located in coding exon 18 of the BRCA2 gene, results from an A to T substitution at nucleotide position 8470. This changes the amino acid from an arginine to a stop codon within coding exon 18. This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). Additionally, this alteration was identified in an individual diagnosed with breast and/or ovarian cancer from China (Bhaskaran SP et al. Int J Cancer, 2019 08;145:962-973). In addition to the clinical data presented in the literature, 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.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496945 SCV000587955 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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