ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6449_6450del (p.Lys2150fs) (rs80359594)

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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) RCV000113591 SCV000301050 pathogenic Breast-ovarian cancer, familial 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 RCV000113591 SCV000327433 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000484644 SCV000564790 pathogenic not provided 2015-02-16 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.6449_6450delAA at the cDNA level and p.Lys2150SerfsX25 (K2150SfsX25) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ATTA[AA]GTTT. The deletion causes a frameshift, which changes a Lysine to a Serine at codon 2150, and creates a premature stop codon at position 25 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.6449_6450delAA, previously reported as 6677_6678delAA, has been observed in association with breast and/or ovarian cancer (Foretova 2004). we consider this variant to be pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000590435 SCV000694973 pathogenic Hereditary breast and ovarian cancer syndrome 2017-02-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6449_6450delAA (p.Lys2150Serfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 118150 control chromosomes. Multiple publications cite this variant in affected individuals. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113591 SCV000146858 pathogenic Breast-ovarian cancer, familial 2 2005-09-27 no assertion criteria provided clinical testing

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