ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) (rs80358589)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131758 SCV000186801 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077303 SCV000146234 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148431 SCV000190130 likely benign Carcinoma of esophagus 2014-06-01 criteria provided, single submitter research
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000044195 SCV000586942 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-04-18 no assertion criteria provided clinical testing
Color RCV000131758 SCV000683557 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120318 SCV000591861 likely benign not specified 2015-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000120318 SCV000108610 likely benign not specified 2017-12-10 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000077303 SCV000743285 uncertain significance Breast-ovarian cancer, familial 2 2014-10-08 criteria provided, single submitter clinical testing
ITMI RCV000120318 SCV000084470 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000044195 SCV000383677 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315582 SCV000383678 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000120318 SCV000916997 benign not specified 2017-12-06 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.3445A>G (p.Met1149Val) variant involves the alteration of a non-conserved nucleotide, not located in any known domain. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 49/280622 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.001219 (23/18862). This frequency is about 2 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 East Asian origin. The variant of interest have been observed in multiple affected individuals with limited information concerning co-occurrence and co-segregation data. One study reported the variant of interest in a 56 y/o individual with no cancer, who had a family history of BrC, suggesting the variant not segregate with disease (Carney_2010). A case-control study in Asian population showed that this variant does not associate with Breast Cancer (OR=0.83, P=0.74, Lai_2017). UMD reports the variant to co-occur with another potentially pathogenic BRCA2 variant, c.2092delC (Leu698Tyrfs). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Invitae RCV000044195 SCV000072208 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120318 SCV000600550 likely benign not specified 2017-03-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758884 SCV000887791 benign not provided 2018-08-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077303 SCV000109100 benign Breast-ovarian cancer, familial 2 2009-09-01 no assertion criteria provided clinical testing

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