ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) (rs372017932)

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Total submissions: 10
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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) RCV000169468 SCV000578267 likely benign Breast-ovarian cancer, familial 1 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 RCV000123905 SCV000167255 benign not specified 2014-05-24 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.
Ambry Genetics RCV000163134 SCV000213648 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 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.
Counsyl RCV000169468 SCV000220907 likely benign Breast-ovarian cancer, familial 1 2014-11-24 criteria provided, single submitter literature only
Invitae RCV000206665 SCV000260817 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163134 SCV000537456 likely benign Hereditary cancer-predisposing syndrome 2015-07-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123905 SCV000916753 likely benign not specified 2019-07-04 criteria provided, single submitter clinical testing
Mendelics RCV000169468 SCV001140574 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000169468 SCV001283969 uncertain significance Breast-ovarian cancer, familial 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001354001 SCV000591382 likely benign not provided no assertion criteria provided clinical testing The BRCA1 p.Ser784Ser variant 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) do not predict a difference in splicing. Co-occurrences with other pathogenic variant(s) have been reported (BRCA1 c.886_889delAGAA, p.Arg296*; BRCA1 c.3748G>T, p.Glu1250*), providing supporting evidence for a benign role (ClinVar, SCV000916753.1). The variant was identified in control databases in 8 of 128598 chromosomes (0 homozygous) at a frequency of 0.000039, and was observed at the highest frequency in the European (non-Finnish) population in 8 of 128598 chromosomes (freq: 0.00006221) (Genome Aggregation Database March 6, 2019, v2.1.1). In summary, 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 likely benign.

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