Submissions for variant NM_007294.4(BRCA1):c.130del (p.Cys44fs) (rs80357951)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000077485	SCV000299408	pathogenic	Breast-ovarian cancer, familial 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	RCV000077485	SCV000325008	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000485954	SCV000566442	pathogenic	not provided	2015-05-05	criteria provided, single submitter	clinical testing	This deletion of one nucleotide in BRCA1 is denoted c.130delT at the cDNA level and p.Cys44AlafsX6 (C44AfsX6) at the protein level. The normal sequence, with the base that is deleted in braces, is ATTT[T]GCAA. The deletion causes a frameshift, which changes a Cysteine to an Alanine at codon 44, and creates a premature stop codon at position 6 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.
Sharing Clinical Reports Project (SCRP)	RCV000077485	SCV000109283	pathogenic	Breast-ovarian cancer, familial 1	2012-03-28	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000077485	SCV000144398	pathogenic	Breast-ovarian cancer, familial 1	1999-06-21	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto	RCV000496885	SCV000587016	pathogenic	Hereditary breast and ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research