ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2932T>C (p.Tyr978His)

dbSNP: rs876659545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216386 SCV000276132 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-07 criteria provided, single submitter clinical testing The p.Y978H variant (also known as c.2932T>C and 3051T>C), located in coding exon 9 of the BRCA1 gene, results from a T to C substitution at nucleotide position 2932. The tyrosine at codon 978 is replaced by histidine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 150000 alleles tested) in our clinical cohort. 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 p.Y978H remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000216386 SCV003849241 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).
All of Us Research Program, National Institutes of Health RCV003997943 SCV004833376 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2023-08-15 criteria provided, single submitter clinical testing

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