ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3359_3360insG (p.Val1120_Asn1121insTer)

dbSNP: rs2154323689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center RCV001528196 SCV001739437 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2021-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873732 SCV002179712 pathogenic Hereditary breast ovarian cancer syndrome 2021-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn1121*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions.
Ambry Genetics RCV002324127 SCV002607183 pathogenic Hereditary cancer-predisposing syndrome 2020-09-17 criteria provided, single submitter clinical testing The c.3359_3360insG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from an insertion of one nucleotide at position 3359, causing a translational frameshift with a predicted alternate stop codon (p.N1121*). 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.

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