ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1863T>C (p.His621=)

dbSNP: rs786201460
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495006 SCV000578083 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/).
Ambry Genetics RCV000163689 SCV000214263 likely benign Hereditary cancer-predisposing syndrome 2017-09-06 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.
GeneDx RCV000438389 SCV000525814 likely benign not specified 2016-03-11 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.
Invitae RCV001407806 SCV001609788 likely benign Hereditary breast ovarian cancer syndrome 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003407608 SCV004140631 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing BRCA1: PM2:Supporting, BP4, BP7
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353440 SCV000591353 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The p.His621His variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It was not identified in the literature, nor the UMD, LOVD or BIC databases. The prevalence of this variant in the general population is not known. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for it. This variant meets our laboratory's classification criteria as predicted benign.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735486 SCV000863623 likely benign Breast and/or ovarian cancer 2012-12-13 no assertion criteria provided clinical testing

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