ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.3608G>A (p.Arg1203Gln) (rs55930959)

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Total submissions: 11
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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) RCV000112134 SCV000244343 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000365
Invitae RCV000588566 SCV000076265 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162979 SCV000213467 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Pathway Genomics RCV000112134 SCV000223747 likely benign Breast-ovarian cancer, familial 1 2014-10-30 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000048252 SCV000258060 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-07-15 criteria provided, single submitter clinical testing
Counsyl RCV000112134 SCV000489044 benign Breast-ovarian cancer, familial 1 2016-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000428879 SCV000515531 likely benign not specified 2017-09-25 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 RCV000588566 SCV000699045 likely benign not provided 2016-03-16 criteria provided, single submitter clinical testing Variant summary: The c.3608G>A variant affects a non-conserved nucleotide, resulting in amino acid change from Arg to Gln. 4/4 in-silico tools (SNPs&GO not captured here due to low reliability index) predict this variant to be benign, although these predictions have yet to be functionally assessed. This variant was found in 7/120792 control chromosomes from the broad and large populations of ExAC at a frequency of 0.000058. It was only found in European Finnish sub-population with an allele frequency of 0.00106 (7/6604 chromosomes) which is similar to the predicted maximal expected frequency of a pathogenic allele (0.0010005) in this gene suggesting that this variant is likely to be a benign polymorphism in the population. The variant has been found in many HBOC patients without strong evidence of causality. The variant has also been reported to co-occur with a deleterious variant in BRCA2 c.778_779delGA, suggesting the variant is likely to be benign. Multiple clinical laboratories as well as reputable databases have classified this variant as benign/likely benign. Multifactorial probability based models are also in support of benign outcome. Taken together, this variant has currently been classified as Likely Benign.
Color RCV000162979 SCV000903322 likely benign Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000588566 SCV001151330 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112134 SCV000144808 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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