ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.101del (p.Pro34fs) (rs80357750)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000111768 SCV000144299 pathogenic Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111768 SCV000299404 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000496845 SCV000698828 pathogenic Hereditary breast and ovarian cancer syndrome 2017-01-06 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.101delC (p.Pro34Leufs) variant, alternatively also known as 220delC, results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay (NMD), which is the known disease mechanism in HBOC. If the variant escapes NMD, it is expected to truncate substantial part of RING domain and truncate S-R and BRCT domains (InterPro). Truncations downstream of this position have been classified as pathogenic by our laboratory and others (e.g. p.Gln60X, p.Glu143X, p.Trp1815X, etc.). This variant is absent in 113688 control chromosomes from ExAC. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. It has been reported in at least two HBOC patients by clinical labs in ClinVar. Taken together, this variant is classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496845 SCV000587010 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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