ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)

dbSNP: rs273899698
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Total submissions: 6
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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) RCV000077538 SCV000299881 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.
Ambry Genetics RCV000216019 SCV000275691 pathogenic Hereditary cancer-predisposing syndrome 2022-09-05 criteria provided, single submitter clinical testing The p.E1033* pathogenic mutation (also known as c.3097G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 3097. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration was identified in a cohort of unselected ovarian cancer patients from China (Li A et al. Gynecol. Oncol. 2018 10;151:145-152), as well as in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077538 SCV000325554 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763004 SCV000893449 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2018-10-31 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077538 SCV000109339 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2010-11-10 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077538 SCV000144633 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2000-06-12 no assertion criteria provided clinical testing

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