ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) (rs374620036)

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Total submissions: 13
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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) RCV000211013 SCV000578749 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Michigan Medical Genetics Laboratories,University of Michigan RCV000211013 SCV000195994 uncertain significance Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163574 SCV000214133 likely benign Hereditary cancer-predisposing syndrome 2014-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001081901 SCV000260226 benign Hereditary breast and ovarian cancer syndrome 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000589802 SCV000512373 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21120943, 22711857, 25415225, 30287823)
Baylor Genetics RCV000471964 SCV000541073 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163574 SCV000683746 likely benign Hereditary cancer-predisposing syndrome 2016-10-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000418331 SCV000694924 likely benign not specified 2019-11-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589802 SCV000887861 likely benign not provided 2018-07-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000418331 SCV001159045 likely benign not specified 2018-09-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353788 SCV000592018 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The BRCA2 p.Asn1995Asn variant was identified in 2 of 5052 proband chromosomes (frequency: 0.0004) from individuals or families with breast and ovarian cancer (Alsop 2012, Caux-Moncoutier 2011). The variant was also identified in dbSNP (ID: rs374620036) “With Likely benign allele”, NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC) database, Clinvitae database (X1), COSMIC, the ClinVar database (classified as a likely benign variant by the Ambry Genetics), GeneInsight COGR database (1X, classified as “likely benign” by a clinical laboratory), and UMD (3X as a UV variant). This variant was identified in the Exome Variant Server project in 1 of 8596 European American alleles, the Exome Aggregation Consortium (ExAC) database (released Jan 13, 2015) in 2 of 82920 chromosomes (2 individuals) from a population of European (Non-Finnish /South Asian individuals, although this low number of observations and low frequency is not substantive enough to determine the prevalence of the variant in the general population and its relationship to disease. The p.Asn1995Asn variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735578 SCV000863716 likely benign Breast and/or ovarian cancer 2013-04-19 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000589802 SCV001954702 likely benign not provided no assertion criteria provided clinical testing

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