Submissions for variant NM_032043.3(BRIP1):c.612C>G (p.Ser204=)

gnomAD frequency: 0.00001  dbSNP: rs587780832

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000123362	SCV000166685	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2023-10-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000410021	SCV000404614	uncertain significance	Fanconi anemia complementation group J	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Counsyl	RCV000410021	SCV000489959	likely benign	Fanconi anemia complementation group J	2016-08-24	criteria provided, single submitter	clinical testing
Counsyl	RCV000411574	SCV000489960	likely benign	Ovarian neoplasm	2016-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000603905	SCV000730995	likely benign	not specified	2018-01-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000776533	SCV000912129	likely benign	Hereditary cancer-predisposing syndrome	2018-02-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000776533	SCV001187018	likely benign	Hereditary cancer-predisposing syndrome	2019-03-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Myriad Genetics, Inc.	RCV003315828	SCV004019430	benign	Familial cancer of breast	2023-03-01	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.