ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4683C>G (p.Thr1561=) (rs878853265)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482214 SCV000568442 uncertain significance not provided 2016-09-21 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4683C>G at the DNA level. This variant is silent at the coding level, preserving a Threonine at codon 1561. Using alternate nomenclature, this variant would be defined as BRCA1 4802C>G. It is not predicted to cause abnormal splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. BRCA1 c.4683C>G 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, a cytosine (C) at base 4683, is conserved through mammals. Based on currently available information, it is unclear whether BRCA1 c.4683C>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000559495 SCV000635992 likely benign Hereditary breast and ovarian cancer syndrome 2017-06-26 criteria provided, single submitter clinical testing

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