Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495309 | SCV000578124 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 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/). |
Ambry Genetics | RCV000129771 | SCV000184580 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-02-05 | criteria provided, single submitter | clinical testing | The c.231G>C variant (also known as p.T77T or350G>C) located in coding exon 4, results from a G to C substitution at nucleotide position 231 of the BRCA1 gene. This nucleotide substitution does not change the amino acid at codon 77.While this alteration has not been reported in the literature to date, a similar non amnio acid changing variant in the BRCA1 gene (c.231G>T) has been reported to lead to exon skipping (Raponi M et al. Hum Mutat. 2011 Apr;32(4):436-44).The c.231G>C variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. This nucleotide position is well conserved in available vertebrate species. Of note, the reference nucleotide in lower primates thorough fish is different than the reference nucleotide in humans and higher primates. Using the BDGP and ESEfinder splice site prediction tools, this alteration does not have any significant effect on the acceptor splice site; however, direct evidence is unavailable.Since supporting evidence for this variant is conflicting at this time, the clinical significance of c.231G>C remains unclear. |
Brotman Baty Institute, |
RCV000495309 | SCV001238504 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |