ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3357del (p.Val1120fs)

dbSNP: rs80357827
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Total submissions: 5
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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) RCV000112079 SCV000299930 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112079 SCV000328430 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386167 SCV001586302 pathogenic Hereditary breast ovarian cancer syndrome 2020-05-13 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 22762150). This variant is also known as c.3476delT in the literature. ClinVar contains an entry for this variant (Variation ID: 125631). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val1120Leufs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV004019599 SCV005026042 pathogenic Hereditary cancer-predisposing syndrome 2024-01-23 criteria provided, single submitter clinical testing The c.3357delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3357, causing a translational frameshift with a predicted alternate stop codon (p.V1120Lfs*9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112079 SCV000144736 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 1997-04-10 no assertion criteria provided clinical testing

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