ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) (rs45491005)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757040 SCV000885096 likely benign not provided 2018-02-21 criteria provided, single submitter clinical testing The BRCA2 c.5768A>C; p.Asp1923Ala variant (rs45491005) has been reported in at least one individual affected with unilateral breast cancer (Borg 2010). This variant is reported as benign or likely benign by several laboratories in ClinVar (Variation ID: 37995) and is observed in the African population at an overall frequency of 0.3% (75/24020 alleles) in the Genome Aggregation Database. The aspartic acid at codon 1923 is weakly conserved and computational algorithms (Alamut v.2.10) predict this variant to be tolerated. Based on the above information, this variant is considered likely benign. References: Borg A et al. Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Hum Mutat. 2010 Mar;31(3):E1200-40.
Ambry Genetics RCV000131532 SCV000186526 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031576 SCV000146692 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770727 SCV000902207 likely benign Breast and/or ovarian cancer 2017-08-31 criteria provided, single submitter clinical testing
Color RCV000131532 SCV000910703 benign Hereditary cancer-predisposing syndrome 2016-01-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044748 SCV000592000 likely benign not specified 2014-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000044748 SCV000210371 likely benign not specified 2018-01-08 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 RCV000195306 SCV000494400 likely benign Hereditary breast and ovarian cancer syndrome 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5768A>C (p.Asp1923Ala) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. This variant was found in 34/121054 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0032372 (33/10194). 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 African origin. One co-occurrence with BRCA1 c.2679_2682delGAAA was found in one individual (BRCA Share database). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as likely benign.
Invitae RCV000195306 SCV000072761 benign Hereditary breast and ovarian cancer syndrome 2018-01-03 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031576 SCV000267786 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031576 SCV000054182 benign Breast-ovarian cancer, familial 2 2009-02-23 no assertion criteria provided clinical testing

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