ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3154A>G (p.Asn1052Asp)

gnomAD frequency: 0.00001  dbSNP: rs768995134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219103 SCV000277000 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-03 criteria provided, single submitter clinical testing The p.N1052D variant (also known as c.3154A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 3154. The asparagine at codon 1052 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved on limited sequence alignment. In addition, the in silico prediction for this alteration is inconclusive. 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 RCV000219103 SCV003847299 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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