ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8754+1G>T (rs397508006)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570219 SCV000665986 likely pathogenic Hereditary cancer-predisposing syndrome 2016-04-14 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258328 SCV000327954 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000258328 SCV000744547 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000258328 SCV000733321 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
GeneDx RCV000430537 SCV000517028 pathogenic not provided 2015-05-06 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.8754+1G>T or IVS21+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 21 of the BRCA2 gene. This variant, also known as BRCA2 c.8982+1G>T using alternate nomenclature, destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. A functional analysis of this mutation observed activation of a cryptic splice site leading to aberrant splicing (Hansen 2008). BRCA2 c.8982+1G>T has been published as a de novo mutation arising from the male germ line in an individual with early onset breast cancer (Hansen 2008). we consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000430537 SCV000889165 likely pathogenic not provided 2018-03-14 criteria provided, single submitter clinical testing

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