ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2865A>T (p.Ser955=) (rs748285767)

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Total submissions: 3
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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) RCV000495261 SCV000578241 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 RCV000235228 SCV000293616 uncertain significance not provided 2015-12-01 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2865A>T at the DNA level. This variant is silent at the coding level, preserving a Serine at codon 955. It is not predicted to cause abnormal splicing. BRCA1 c.2865A>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, an adenine (A) at base 2865, is conserved in mammals. Using alternate nomenclature, this variant would be defined as BRCA1 c.2984A>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Based on currently available information, it is unclear whether BRCA1 c.2865A>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000637986 SCV000759466 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-02 criteria provided, single submitter clinical testing

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