ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.936del (p.Gly312_Leu313insTer)

dbSNP: rs398122709
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Total submissions: 3
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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) RCV000077186 SCV000299509 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000167151 SCV000217981 pathogenic Hereditary cancer-predisposing syndrome 2017-01-20 criteria provided, single submitter clinical testing The c.936delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at position 936, causing a translational frameshift with a predicted alternate stop codon (p.L313*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Sharing Clinical Reports Project (SCRP) RCV000077186 SCV000108983 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2009-01-13 no assertion criteria provided clinical testing

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