ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter)

dbSNP: rs587776468
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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) RCV000144189 SCV000300973 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.
Ambry Genetics RCV000222461 SCV000274024 pathogenic Hereditary cancer-predisposing syndrome 2015-02-20 criteria provided, single submitter clinical testing The p.L2015* pathogenic mutation (also known as c.6044T>A and 6272T>A) located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 6044. This changes the amino acid from a leucine to a stop codon within coding exon 10. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586567 SCV005075896 pathogenic Hereditary breast ovarian cancer syndrome 2024-04-30 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6044T>A (p.Leu2015X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 1461452 control chromosomes. To our knowledge, no occurrence of c.6044T>A in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 156172). Based on the evidence outlined above, the variant was classified as pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000144189 SCV000189262 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2012-08-03 no assertion criteria provided clinical testing
CZECANCA consortium RCV001271043 SCV001451862 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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