ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3403T>G (p.Tyr1135Asp)

dbSNP: rs80358583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587081 SCV000694693 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing Variant summary: The c.3403T>G variant affects a non-conserved nucleotide, resulting in amino acid change from Tyr to Asp. 3/5 in-silico tools predict this variant to be damaging. This variant is not found in 120770 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Ambry Genetics RCV002456281 SCV002614977 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-11 criteria provided, single submitter clinical testing The p.Y1135D variant (also known as c.3403T>G), located in coding exon 10 of the BRCA2 gene, results from a T to G substitution at nucleotide position 3403. The tyrosine at codon 1135 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV002456281 SCV003851928 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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