ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4625_4626del (p.Ser1542fs) (rs80357542)

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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) RCV000112367 SCV000300148 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000236865 SCV000293464 pathogenic not provided 2016-02-24 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA1 is denoted c.4625_4626delCT at the cDNA level and p.Ser1542TrpfsX31 (S1542WfsX31) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAGT[CT]GGGC. The deletion causes a frameshift which changes a Serine to a Tryptophan at codon 1542, and creates a premature stop codon at position 31 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.4625_4626delCT has been observed in at least two breast/ovarian cancer families (Evans 2003). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112367 SCV000326012 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000504357 SCV000591528 pathogenic Hereditary breast and ovarian cancer syndrome 2014-08-05 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112367 SCV000145133 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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