ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4502G>T (p.Cys1501Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005020352 SCV005647130 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2024-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV005323681 SCV005980090 uncertain significance Hereditary cancer-predisposing syndrome 2025-01-06 criteria provided, single submitter clinical testing The p.C1501F variant (also known as c.4502G>T), located in coding exon 13 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4502. The cysteine at codon 1501 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV005323681 SCV006064113 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces cysteine with phenylalanine at codon 1501 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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