ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) (rs773489367)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213780 SCV000273635 likely benign Hereditary cancer-predisposing syndrome 2015-01-19 criteria provided, single submitter clinical testing
Color RCV000213780 SCV000689264 likely benign Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing
Counsyl RCV000411964 SCV000489949 likely benign Fanconi anemia, complementation group J 2016-08-22 criteria provided, single submitter clinical testing
Counsyl RCV000409670 SCV000489950 likely benign Neoplasm of ovary 2016-08-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586953 SCV000699665 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.1455T>C (p.Ala485Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant, and 5/5 splicing algorithms predict no significant change to normal splicing. However, the variant has not been evaluated for functional impact by in vivo/vitro studies. This variant was found in 3/85620 control chromosomes at a frequency of 0.000035, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625). The variant of interest was reported as a germline variant in one Turkmen esophageal squamous cell carcinoma case without evidence of causality (i.e. co-segregation or co-occurrence data; Akbari_Hum Genet_2011). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as Likely Benign without providing evidence to independently evaluate. Taken together and based on the synonymous nature of this variant, it has been classified as a VUS-possibly benign until additional information is available.
Invitae RCV000226775 SCV000290977 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-08-16 criteria provided, single submitter clinical testing

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