ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer)

dbSNP: rs80357858
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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) RCV000239028 SCV000783601 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV001225144 SCV001397383 pathogenic Hereditary breast ovarian cancer syndrome 2021-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 252873). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1086*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002321920 SCV002611100 pathogenic Hereditary cancer-predisposing syndrome 2019-10-30 criteria provided, single submitter clinical testing The c.3257delT pathogenic mutation, also known as p.Leu1086*, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3257, causing a predicted alternate stop codon. 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) RCV000239028 SCV000297476 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2007-05-29 no assertion criteria provided clinical testing

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