ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3531del (p.Phe1177fs) (rs80357621)

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Total submissions: 4
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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) RCV000112111 SCV000299959 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 RCV000497273 SCV000210042 pathogenic not provided 2014-09-25 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.3531delT at the cDNA level and p.Phe1177LeufsX33 (F1177LfsX33) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GTTTT[T]AGCA. The deletion causes a frameshift, which changes a Phenylalanine to a Leucine at codon 1177, and creates a premature stop codon at position 33 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112111 SCV000325676 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112111 SCV000144783 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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