Submissions for variant NM_007294.4(BRCA1):c.4332T>C (p.Asn1444=)

gnomAD frequency: 0.00001  dbSNP: rs752824502

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495432	SCV000578379	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2017-06-29	reviewed by expert panel	curation	Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Invitae	RCV001088701	SCV000635964	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563100	SCV000665341	likely benign	Hereditary cancer-predisposing syndrome	2015-07-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759539	SCV000888918	likely benign	not provided	2018-07-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780987	SCV000918715	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000780987	SCV001158960	likely benign	not specified	2019-04-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000563100	SCV001352666	likely benign	Hereditary cancer-predisposing syndrome	2018-12-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902743	SCV004719711	likely benign	BRCA1-related condition	2020-07-30	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).