ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)

dbSNP: rs276174876
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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) RCV000113633 SCV000301099 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113633 SCV000327504 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362674 SCV002664585 pathogenic Hereditary cancer-predisposing syndrome 2022-04-05 criteria provided, single submitter clinical testing The p.E2239* pathogenic mutation (also known as c.6715G>T), located in coding exon 10 of the BRCA2 gene, results from a G to T substitution at nucleotide position 6715. This changes the amino acid from a glutamic acid 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. This alteration was identified in one patient with a personal and family history of early-onset breast cancer amongst a cohort of 187 Malaysian breast cancer patients undergoing HBOC genetic testing (Thirthagiri E et al. Breast Cancer Res, 2008 Jul;10:R59). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Baylor Genetics RCV003473387 SCV004212787 pathogenic Familial cancer of breast 2022-06-03 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113633 SCV000146916 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2010-09-18 no assertion criteria provided clinical testing

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