ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4185+3A>G (rs397509148)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212180 SCV000210029 uncertain significance not provided 2014-10-03 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4185+3 A>G or IVS11+3 A>G and consists of an A>G nucleotide substitution at the +3 position of intron 11 of the BRCA1 gene. Multiple in silico models predict this variant to damage the nearby natural donor site, and to possibly cause abnormal gene splicing. This variant, also known as c.4304+3A>G and IVS12+3A>G, was observed in one individual with breast cancer diagnosed at age 27 with no family history of breast or ovarian cancer (Loizidou 2007). Based on currently available information, it is unclear whether BRCA1 c.4185+3 A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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