ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2443del (p.Ile815fs) (rs80357598)

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Total submissions: 6
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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) RCV000077519 SCV000299769 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047842 SCV000075855 pathogenic Hereditary breast and ovarian cancer syndrome 2018-02-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile815Phefs*31) 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). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 54572). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000047842 SCV000605745 pathogenic Hereditary breast and ovarian cancer syndrome 2016-08-04 criteria provided, single submitter clinical testing The p.Ile815fs variant in BRCA1 has been reported in 1 individual with breast an d ovarian cancer (Breast Cancer Information Core (BIC) database). It was also ab sent from large population studies. This variant is predicted to cause a framesh ift, which alters the protein?s amino acid sequence beginning at position 815 an d leads to a premature termination codon 31 amino acids downstream. This alterat ion is then predicted to lead to a truncated or absent protein. Heterozygous los s of function of the BRCA1 gene is an established disease mechanism for heredita ry breast and ovarian cancer (HBOC). In addition, this variant was classified as Pathogenic on September 8, 2016 by the ClinGen-approved ENIGMA expert panel (Cl inVar SCV000299769.2). In summary, this variant meets our criteria to be classif ied as pathogenic for autosomal dominant HBOC.
Ambry Genetics RCV000565074 SCV000665848 pathogenic Hereditary cancer-predisposing syndrome 2018-08-31 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Sharing Clinical Reports Project (SCRP) RCV000077519 SCV000109320 pathogenic Breast-ovarian cancer, familial 1 2010-02-08 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077519 SCV000144438 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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