ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1428_1431del (p.His477fs)

dbSNP: rs587781804
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Total submissions: 2
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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) RCV000241413 SCV000300430 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000130073 SCV000184900 pathogenic Hereditary cancer-predisposing syndrome 2013-12-29 criteria provided, single submitter clinical testing ​The c.1428_1431delTCAT pathogenic mutation (also known as c.1656_1659delTCAT), located in coding exon 9 of the BRCA2 gene, results from a deletion of 4 nucleotides (TCAT) between positions 1428 and 1431, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts 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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