ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3475del (p.Glu1158_Ile1159insTer)

dbSNP: rs1555587638
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020389 SCV001181862 pathogenic Hereditary cancer-predisposing syndrome 2017-12-22 criteria provided, single submitter clinical testing The c.3475delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3475, causing a translational frameshift with a predicted alternate stop codon (p.I1159*). 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.
Color Diagnostics, LLC DBA Color Health RCV001020389 SCV001358343 pathogenic Hereditary cancer-predisposing syndrome 2023-10-31 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with BRCA1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001383636 SCV001582856 pathogenic Hereditary breast ovarian cancer syndrome 2021-04-23 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.Ile1159*) 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. ClinVar contains an entry for this variant (Variation ID: 823814).
Sema4, Sema4 RCV001020389 SCV002538213 likely pathogenic Hereditary cancer-predisposing syndrome 2021-01-12 criteria provided, single submitter curation

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