Submissions for variant NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter) (rs80356875)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000031034	SCV000299709	pathogenic	Breast-ovarian cancer, familial 1	2016-09-08	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics	RCV000162852	SCV000213339	pathogenic	Hereditary cancer-predisposing syndrome	2017-02-10	criteria provided, single submitter	clinical testing	Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000031034	SCV000325272	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000585721	SCV000693515	pathogenic	not provided	2020-01-01	criteria provided, single submitter	clinical testing	This variant is a single amino acid change from Glutamic Acid to a Termination codon at amino acid residue 720 of the BRCA1 gene. It is expected to result in a truncated, non-functional protein. Truncating variants in the BRCA1 gene are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 37453).
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000585721	SCV000887637	pathogenic	not provided	2017-09-23	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000031034	SCV000053628	pathogenic	Breast-ovarian cancer, familial 1	2010-07-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000031034	SCV000144315	pathogenic	Breast-ovarian cancer, familial 1	1998-04-15	no assertion criteria provided	clinical testing