ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8205_8206del (p.Leu2737fs) (rs397507396)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031726 SCV000327836 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031726 SCV000301251 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000479269 SCV000569423 pathogenic not provided 2016-11-23 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.8205_8206delCC at the cDNA level and p.Leu2737SerfsX26 (L2737SfsX26) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 8433_8434delCC or 8433delCC. The normal sequence, with the bases that are deleted in brackets, is CTCC[delCC]TCTT. The deletion causes a frameshift which changes a Leucine to a Serine at codon 2737, and creates a premature stop codon at position 26 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV000792485 SCV000931788 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2737Serfs*26) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 38143). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031726 SCV000054333 pathogenic Breast-ovarian cancer, familial 2 2008-02-14 no assertion criteria provided clinical testing

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