ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) (rs41293473)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163333 SCV000213867 likely benign Hereditary cancer-predisposing syndrome 2014-09-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000467442 SCV000541067 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112874 SCV000145804 uncertain significance Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
Color RCV000163333 SCV000683394 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing
Counsyl RCV000112874 SCV000489615 likely benign Breast-ovarian cancer, familial 2 2016-10-27 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000173639 SCV000591725 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724514 SCV000224770 uncertain significance not provided 2015-01-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112874 SCV000578713 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/).
GeneDx RCV000173639 SCV000512336 benign not specified 2015-04-15 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 RCV000173639 SCV000918934 likely benign not specified 2017-12-06 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1011C>T (p.Asn337Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 10/272170 control chromosomes (gnomAD) at a frequency of 0.0000367, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). However, this variant may still represent as a rare polymorphism. The variant was reported in the literature in an HBOC patient without strong evidence of causality (neither co-segregation data nor family history provided). Internal data (LCA sample) reports the variant to occur in homozygous state and UMD reports the variant to co-occur with another potentially pathogenic BRCA1 variant, c.2808_2809delTA (p.Asp936GlufsX4), suggesting that this synonymous variant is likely to be benign. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Due to the synonymous nature of this variant, the lack of predicted effect on splicing, and the presence of the variant in an individual with a potentially deleterious BRCA1 variant and in homozygous state in at least one individual, this synonymous mutation has currently been classified as likely benign.
Invitae RCV000043716 SCV000071729 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000173639 SCV000600454 likely benign not specified 2017-06-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724514 SCV000888971 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing

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