ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter)

dbSNP: rs886039987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257604 SCV000323382 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257604 SCV000325204 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509880 SCV000608096 pathogenic Hereditary cancer-predisposing syndrome 2015-10-29 criteria provided, single submitter clinical testing The p.Y655* pathogenic mutation (also known as c.1965C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 1965. This changes the amino acid from a tyrosine to a stop codon within coding exon 9. This alteration has been reported in one HBOC family from France and one from northern Spain (Lecarpentier J et al. Breast Cancer Res. 2012; 14(4):R99; Blay P et al. BMC Cancer 2013; 13:243). 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).
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA) RCV000257604 SCV005061280 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2021-05-24 no assertion criteria provided case-control

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