ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4707C>G (p.Tyr1569Ter)

dbSNP: rs878853585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071210 SCV001236501 pathogenic Hereditary breast ovarian cancer syndrome 2022-09-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1569*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 864101).
Ambry Genetics RCV002339348 SCV002637929 pathogenic Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing The p.Y1569* pathogenic mutation (also known as c.4707C>G), located in coding exon 10 of the BRCA2 gene, results from a C to G substitution at nucleotide position 4707. This changes the amino acid from a tyrosine to a stop codon within coding exon 10. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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