ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.548-15G>A (rs755221482)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656994 SCV000292711 uncertain significance not provided 2017-07-04 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.548-15G>A or IVS7-15G>A and consists of a G>A nucleotide substitution at the -15 position of intron 7 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 667-15G>A. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has been observed in at least two individuals with personal and/or family history of breast and/or ovarian cancer (Park 2017, Ryu 2017). BRCA1 c.548-15G>A was not observed at a significant allele frequency in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The guanine (G) nucleotide that is altered is conserved in mammals. Based on currently available information, it is unclear whether BRCA1 c.548-15G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000236859 SCV000591283 uncertain significance not specified 2016-05-11 criteria provided, single submitter clinical testing
Color RCV000580004 SCV000683324 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-04 criteria provided, single submitter clinical testing

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