ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.516+14C>T (rs182828913)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000456351 SCV000541071 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Color RCV000581137 SCV000683678 benign Hereditary cancer-predisposing syndrome 2015-04-25 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000179248 SCV000591688 benign not specified 2015-09-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179248 SCV000231468 benign not specified 2014-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000179248 SCV000167323 benign not specified 2014-01-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000119227 SCV000494399 benign Hereditary breast and ovarian cancer syndrome 2016-06-20 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.516+14C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, which was confirmed by multiple functional studies (Bonnet_2008, Houdayer_2012, Menendez_2012, de Garibay_2014). Although this variant has been reported in breast cancer patients, this variant was also found in 36/117190 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.0027521 (31/11264). This frequency is about 4 times the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. In addition, co-occurrences of this variant and a pathogenic BRCA1 variant have been reported in at least two patients (Garcia-Casado_2011 and UMD database). Furthermore, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000119227 SCV000153972 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679175 SCV000805715 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing

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