ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)

dbSNP: rs397509222
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237802 SCV002009429 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000241473 SCV004018666 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2023-06-09 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30209399, 35196514].
Department of Medical Genetics, University Hospital of North Norway RCV000241473 SCV000301435 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2016-05-01 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000500821 SCV000591575 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The p.Asp1692Ala variant has not been reported in the literature. The variant occurs in the first base of the exon, and this position has been shown to be part of the splicing consensus sequence and variants involving this position sometimes affect splicing. The p.Asp1692 residue is conserved across mammals and computational analyses (PolyPhen, SIFT, AlignGVGD) computational analyses (PolyPhen2, SIFT, AlignGVGD) provide inconsistent predictions regarding the impact to the protein. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined at this time. This variant is classified as a variant of unknown significance.
Brotman Baty Institute, University of Washington RCV000241473 SCV001244051 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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